Genomics England

Relevant disorders: Neuropophyseal diabetes insipidus, R440

Signed off date: 20 Dec 2023

Panel types: GMS Rare Disease, GMS signed-off

3 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AQP2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	AVP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AVPR2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A