Genomics England

Genes and Entities

Hypogonadotropic hypogonadism idiopathic (Version: )

There is a more recent signed-off version of this panel

Relevant disorders: R148

Signed off date: 30 Nov 2022

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

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15 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	CHD7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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	N/A
Green	FSHB	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	Q2_21_MOI, Q2_21_expert_review
Green	KISS1R	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	PROK2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PROKR2	BIALLELIC, autosomal or pseudoautosomal	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