Genomics England

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

Relevant disorders: Familial or syndromic hypoparathyroidism, R153

Signed off date: 25 Feb 2020

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

7 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AIRE	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CASR	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	GATA3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GCM2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GNA11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PTH	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TBCE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A