Genomics England

Neonatal diabetes (Version: )

Relevant disorders: Neonatal diabetes (diagnosed less than 6 months), Neonatal diabetes diagnosed <6 months, Diabetes - neonatal onset, R143

Signed off date: 7 Aug 2024

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

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34 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABCC8	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	BSCL2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNOT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	EIF2AK3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EIF2S3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FOXP3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GATA4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	deletions
Green	GATA6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	mosaicism
Green	GCK	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GLIS3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNF1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	mosaicism
Green	IER3IP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL2RA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INS	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	INSR	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37442-Gain 6q24 region (includes PLAGL1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNJ11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LRBA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MNX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEUROD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEUROG3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NKX2-2	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	ONECUT1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PDX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTF1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFX6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAT3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	WFS1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	YIPF5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZFP57	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF808	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked

Neonatal diabetes (Version: 5.04.03.02.2)

Neonatal diabetes (Version: )