Aniridia (Version: )

Relevant disorders: R38
Signed off date: 15 Oct 2020
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
4 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
11p13 (WAGR syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A