Genomics England

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

Relevant disorders: R440

Signed off date: 22 Mar 2023

Panel types: GMS Rare Disease, GMS signed-off

3 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AQP1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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