Genomics England

Severe early-onset obesity (Version: )

Relevant disorders: Significant early-onset obesity with or without other endocrine features and short stature, Significant early-onset obesity +/- other endocrine features and short stature, R149

Signed off date: 22 Mar 2023

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

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33 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ALMS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNAS	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	Q4_22_MOI
Green	ISCA-37404-Loss 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37478-Loss 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37486-Loss 16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIDINS220	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LEP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LEPR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MC4R	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	MKKS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYT1L	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NTRK2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PCSK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM2L1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHF6	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PHIP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	POMC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDCCAG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIM1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	TTC8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Severe early-onset obesity (Version: 4.03.02.2)

Severe early-onset obesity (Version: )