Genomics England

Congenital hyperinsulinism (Version: )

Relevant disorders: Hyperinsulinism, R144

Signed off date: 22 Mar 2023

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

20 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	AKT2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	to_be_confirmed_NHSE, Q4_21_rating, Q4_21_expert_review, Q4_21_phenotype
Green	CACNA1C	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CACNA1D	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXA2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	GCK	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	GLUD1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	GPC3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	to_be_confirmed_NHSE, Q4_21_rating, Q4_21_expert_review, Q4_21_phenotype
Green	HADH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HK1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	non-coding-known-pathogenic
Green	HNF1A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNF4A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	INSR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNJ11	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KDM6A	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	KMT2D	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAGEL2	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	N/A	N/A
Green	NSD1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PMM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC16A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A

Congenital hyperinsulinism (Version: 3.02.3)

Congenital hyperinsulinism (Version: )