Genomics England

Primary immunodeficiency or monogenic inflammatory bowel disease (Version: )

Relevant disorders: Primary immunodeficiency disorders, A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency, SCID, Primary immune disorder, Primary immunodeficiency, A-gammaglobulinaemia, Agammaglobulinaemia, hypo-gammaglobulinaemia, hypogammaglobulinemia, immune deficiency syndromes, Severe combined immunodeficiency, Congenital neutopenia, Familial haemophagocytic lymphohistiocytic disorders, Familial hemophagocytic lymphohistiocytic disorders, PID, Sepsis, Disseminated non-tuberculous mycobacterial infection, Primary immunodeficiency, R15

Signed off date: 3 Oct 2024

Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off

See this panel in PanelApp

365 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACD	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	ACP5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADA	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-therapy-trial
Green	ADA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAM17	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AICDA	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	recurrent-variant
Green	AIRE	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	AK2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALPI	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	ALPK1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ANKZF1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked, watchlist_moi
Green	AP3B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARPC1B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARPC5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6AP1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	B2M	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BACH2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BCL10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLNK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLOC1S6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTK	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	C17orf62	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name, gene-checked
Green	C1QA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C1QB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C1QC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C1R	BIALLELIC, autosomal or pseudoautosomal	N/A	early-onset
Green	C1S	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2orf69	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	C3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C4A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C4B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C8A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C8B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CARD11	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	CARD14	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CARD9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CARMIL2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CASP10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q3_24_expert_review, Q3_24_demote_amber, Q3_24_MOI
Green	CASP8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CBLB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCBE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CD19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CD247	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CD27	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CD3D	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CD3E	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CD3G	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CD4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CD40	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CD40LG	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CD46	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CD55	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CD59	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CD70	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CD79A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CD79B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CD81	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC42	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDCA7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEBPE	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CFD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CFH	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CFI	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CFP	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CHD7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CIB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CIITA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLPB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL7A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COPA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	CORO1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSF2RA	BIALLELIC, autosomal or pseudoautosomal	N/A	Pseudoautosomal region 1
Green	CSF2RB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSF3R	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTLA4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CTPS1	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	CTSC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CXCR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CXCR4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CYBA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYBB	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	gene-therapy-trial
Green	DBR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCLRE1C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DEF6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DIAPH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DKC1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DNAJC21	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNASE1L3	BIALLELIC, autosomal or pseudoautosomal	N/A	deletions, founder-effect
Green	DNASE2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNMT3B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK11	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DOCK2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DUT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EFL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELANE	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ELF4	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EPG5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6L2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXTL3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	F12	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	FADD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAS	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FASLG	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	FAT4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FCHO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FERMT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FERMT3	BIALLELIC, autosomal or pseudoautosomal	N/A	early-onset
Green	FNIP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXN1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	founder-effect
Green	FOXP3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	G6PC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	G6PD	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GATA1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GATA2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GFI1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GINS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUCY2C	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HAVCR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HAX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HELLS	BIALLELIC, autosomal or pseudoautosomal	N/A	early-onset
Green	HMOX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPS4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPS6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSPA1L	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	HTRA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYOU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ICOS	BIALLELIC, autosomal or pseudoautosomal	N/A	deletions
Green	IFIH1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	IFNAR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFNGR1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	IFNGR2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	IGHM	BIALLELIC, autosomal or pseudoautosomal	N/A	locus-type-immunoglobulin-gene
Green	IGLL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IKBKB	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	IKBKG	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IKZF1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	IKZF2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	IKZF3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	IL10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL10RA	BIALLELIC, autosomal or pseudoautosomal	N/A	early-onset
Green	IL10RB	BIALLELIC, autosomal or pseudoautosomal	N/A	early-onset
Green	IL12B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL12RB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL17RA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL17RC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL1RN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL21R	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL23R	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL2RA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL2RB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL2RG	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial
Green	IL36RN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL6R	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL6ST	BIALLELIC, autosomal or pseudoautosomal	N/A	Q3_24_MOI
Green	IL7R	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INO80	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	IRAK4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IRF2BP2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IRF4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	IRF7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IRF8	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37433-Loss 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37446-Loss 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISG15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITCH	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	ITGB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAGN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAK1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	mosaicism, somatic
Green	JAK3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KDM6A	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	KMT2A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT2D	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LACC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMTOR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LCK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LCP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIG4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPIN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRBA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	LYST	BIALLELIC, autosomal or pseudoautosomal	N/A	age-specific-variation
Green	MAGT1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MALT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAP3K14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCM4	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	MCTS1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MECOM	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MEFV	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MOGS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPEG1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MSN	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MTHFD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MVK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYD88	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO5B	BIALLELIC, autosomal or pseudoautosomal	N/A	age-specific-variation
Green	MYSM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NBN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NCF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NCF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NCF4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NCKAP1L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NFAT5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	NFE2L2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NFKB1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NFKB2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NFKBIA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	NHEJ1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NLRC4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	NLRP1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	NLRP12	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NLRP3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOD2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NPC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NSMCE3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUDCD3	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	OAS1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ORAI1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTULIN	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PARN	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PAX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEPD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PI4KA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3CD	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PIK3CG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3R1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	PLCG2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PLG	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PNP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLA1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	POLD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRF1	BIALLELIC, autosomal or pseudoautosomal	N/A	early-onset
Green	PRIM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKCD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKDC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSMB10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSMB8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSTPIP1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PTCRA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTPN2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	PTPRC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB27A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAC2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RAG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAG2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RANBP2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RASGRP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBCK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RECQL4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	REL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RELA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RFX5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFXANK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFXAP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RIPK1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RMRP	BIALLELIC, autosomal or pseudoautosomal	N/A	locus-type-rna-long-non-coding
Green	RNASEH2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNF168	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNU7-1	BIALLELIC, autosomal or pseudoautosomal	N/A	locus-type-rna-small-nuclear, gene-checked
Green	RORC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPSA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RTEL1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SAMD9L	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SAMHD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SASH3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SBDS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEC61A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SERPING1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SGPL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SH2D1A	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SKIV2L	BIALLELIC, autosomal or pseudoautosomal	N/A	early-onset, new-gene-name
Green	SLC29A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35C1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC37A4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC46A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC7A7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLCO2A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMARCAL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMARCD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNORA31	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked, locus-type-small-nucleolar
Green	SOCS1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SP110	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPI1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPINK5	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-therapy-trial, early-onset
Green	SPPL2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRP54	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	STAT1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	STAT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAT3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	early-onset
Green	STAT4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	STAT5B	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	STAT6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	treatable
Green	STIM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STK4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STX11	BIALLELIC, autosomal or pseudoautosomal	N/A	early-onset
Green	STXBP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STXBP3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	gene-checked
Green	SYK	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAZ	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	TBK1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TCF3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TCN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TFRC	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	TGFB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TGFBR1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFBR2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TICAM1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TLR3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	missense
Green	TLR7	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TLR8	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Loss-of-function variants DO NOT cause this phenotype	mosaicism, somatic
Green	TMC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMC8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM173	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	new-gene-name
Green	TNFAIP3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNFRSF1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNFRSF9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOP2B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TPP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAC	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect, locus-type-T-cell-receptor-gene
Green	TRAF3IP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TREX1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM22	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TRNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC37	BIALLELIC, autosomal or pseudoautosomal	N/A	early-onset, new-gene-name
Green	TTC7A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TYK2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UNC13D	BIALLELIC, autosomal or pseudoautosomal	N/A	age-specific-variation
Green	UNC93B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UNG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USP18	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS45	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WAS	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Loss-of-function variants DO NOT cause this phenotype	gene-therapy-trial
Green	WDR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WIPF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XIAP	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ZAP70	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZBTB24	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF341	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	ZNFX1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked

Primary immunodeficiency or monogenic inflammatory bowel disease (Version: 6.126.05.04.03.02.1)

Primary immunodeficiency or monogenic inflammatory bowel disease (Version: )