Genomics England
GMS Panels
Panels
Genes and Entities

Congenital fibrosis of the extraocular muscles (Version: )

Relevant disorders: R46
Signed off date: 3 Mar 2020
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
See this panel in PanelApp
3 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
KIF21A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PHOX2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUBB3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A