Genomics England

Unexplained young onset end-stage renal disease - additional genes (Version: )

This panel is a component of a whole genome sequencing super panel and is only requestable via the superpanel.

Signed off date: 3 Oct 2024

Panel types: Component Of Super Panel, GMS signed-off

36 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACTG2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AGT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGTR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANOS1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ARMC9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BNC2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	C3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CHD7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHRM3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DSTYK	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EYA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FAN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRAS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FREM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FREM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GATA3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLI3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HAAO	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPSE2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37401-Loss 11p13 (WAGR syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ITGA8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KYNU	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRIG2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NOS1AP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PBX1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRDM15	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	RET	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RMND1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RRM2B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SALL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SIX5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBX18	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	WDR72	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Unexplained young onset end-stage renal disease - additional genes (Version: 1.0)

Unexplained young onset end-stage renal disease - additional genes (Version: )