Genomics England

Genes and Entities

Familial hyperparathyroidism or hypocalciuric hypercalcaemia (Version: )

Relevant disorders: Familial hyperparathyroidism, Hypocalciuric hypercalcaemia, R151

Signed off date: 30 Nov 2022

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

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8 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AP2S1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CASR	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CDC73	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDKN1B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GCM2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNA11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MEN1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RET	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A