Genomics England

Relevant disorders: Aniridia, R38

Signed off date: 22 Mar 2023

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

4 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	FOXC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ISCA-37401-Loss 11p13 (WAGR syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ITPR1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PAX6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A