Genomics England

Pituitary hormone deficiency (Version: )

Relevant disorders: R159

Signed off date: 22 Mar 2023

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

29 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	BRAF	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	BTK	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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXA2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	GH1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GHR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GHRHR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GHSR	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GLI2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNRHR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HESX1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HID1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGSF1	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	LHX3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LHX4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	OTX2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PITX2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PNPLA6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POU1F1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PROKR2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PROP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNPC3	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SOX2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TBC1D32	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TBX19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Pituitary hormone deficiency (Version: 3.02.2)

Pituitary hormone deficiency (Version: )