Genomics England

Hypogonadotropic hypogonadism (GMS) (Version: )

Relevant disorders: Hypogonadotropic hypogonadism idiopathic, R148

Signed off date: 6 May 2026

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

28 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ANOS1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ARHGAP35	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CHD7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CUL4B	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FEZF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGF8	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FGFR1	BIALLELIC, autosomal or pseudoautosomal	N/A	Q1_26_MOI
Green	FSHB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNRH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNRHR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL17RD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KISS1R	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KLB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	LEP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LEPR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LHB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDNF	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PLXNA3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-checked
Green	PROK2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PROKR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PROP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNF216	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEMA3F	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	SOX10	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TAC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TACR3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A

Hypogonadotropic hypogonadism (GMS) (Version: 5.04.03.02.21.4)

Hypogonadotropic hypogonadism (GMS) (Version: )