Congenital fibrosis of the extraocular muscles
Gene: KIF21A
R954W identified in a number families with CFEOM1. Most common variant. R954Q also identified in a chinese family. - Mutation hotspotCreated: 21 Mar 2019, 10:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fibrosis of extraocular muscles, congenital, 1 135700; Fibrosis of extraocular muscles, congenital, 3B 135700
Publications
Heterozygous missense variants identified in multiple unrelated families of different ethnicities. Arginine 954 appears to represent a mutational hotspot, although other missense variants have also been reported.
Sources: LiteratureCreated: 16 Feb 2019, 1:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital fibrosis of the extraocular muscles
Publications
Phenotypes for gene: KIF21A were changed from Congenital fibrosis of the extraocular muscles; Fibrosis of extraocular muscles, congenital, 1 135700; Fibrosis of extraocular muscles, congenital, 3B 135700 to Fibrosis of extraocular muscles, congenital, 1, OMIM:135700; Fibrosis of extraocular muscles, congenital, 3B, OMIM:135700
Source Wessex and West Midlands GLH was added to KIF21A. Source Expert Review Green was added to KIF21A. Added phenotypes Fibrosis of extraocular muscles, congenital, 1 135700; Fibrosis of extraocular muscles, congenital, 3B 135700 for gene: KIF21A Publications for gene KIF21A were changed from 15621876 to 15621876; 15621877; 15223798; 18332320 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: KIF21A was added gene: KIF21A was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF21A were set to 15621876 Phenotypes for gene: KIF21A were set to Congenital fibrosis of the extraocular muscles Review for gene: KIF21A was set to GREEN