Congenital fibrosis of the extraocular muscles
Gene: PHOX2A
Four mutations currently identified in PHOX2A, in 5 familles.Created: 21 Mar 2019, 10:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fibrosis of extraocular muscles, congenital, 2 602078
Publications
Gene also known as ARIX.
Sources: LiteratureCreated: 16 Feb 2019, 1:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fibrosis of extraocular muscles, congenital, 2
Publications
Phenotypes for gene: PHOX2A were changed from Fibrosis of extraocular muscles, congenital, 2 602078; Fibrosis of extraocular muscles, congenital, 2 to Fibrosis of extraocular muscles, congenital, 2, OMIM:602078
Source Wessex and West Midlands GLH was added to PHOX2A. Source Expert Review Green was added to PHOX2A. Mode of inheritance for gene PHOX2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fibrosis of extraocular muscles, congenital, 2 602078 for gene: PHOX2A Publications for gene PHOX2A were changed from 11600883 to 11600883; 14597037; 22311481 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: PHOX2A was added gene: PHOX2A was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: PHOX2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PHOX2A were set to 11600883 Phenotypes for gene: PHOX2A were set to Fibrosis of extraocular muscles, congenital, 2 Review for gene: PHOX2A was set to AMBER