Genomics England

Monogenic diabetes (Version: )

Relevant disorders: R141

Signed off date: 25 Feb 2020

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

35 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABCC8	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	AKT2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	APPL1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CEL	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CISD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCAF17	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYRK1B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GATA4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GATA6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GCK	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	HNF1A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNF1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNF4A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	KCNJ11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	LMNA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MT-TL1	MITOCHONDRIAL	N/A	N/A
Green	NEUROD1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PAX6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PCBD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3R1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	PLIN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	POLD1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PPARG	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPP1R15B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFX6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC29A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMT10A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WFS1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ZBTB20	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZFP57	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZMPSTE24	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Monogenic diabetes (Version: 2.2)

Monogenic diabetes (Version: )