Genomics England

Severe insulin resistance and lipodystrophy syndromes (Version: )

Relevant disorders: R158, Lipodystrophy - childhood onset

Signed off date: 14 May 2024

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

26 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AGPAT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BSCL2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAV1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CAVIN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPHX1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	gene-checked
Green	FBN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	INSR	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LIPE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMNA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MFN2	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MTX2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTULIN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCNT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCYT1A	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	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	POC1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLD1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPARG	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PSMB4	BIALLELIC, autosomal or pseudoautosomal	N/A	digenic
Green	PSMB8	BIALLELIC, autosomal or pseudoautosomal	N/A	digenic
Green	WRN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZMPSTE24	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Severe insulin resistance and lipodystrophy syndromes (Version: 4.564.03.02.4)

Severe insulin resistance and lipodystrophy syndromes (Version: )