Congenital fibrosis of the extraocular muscles
Gene: COL25A1
Comment on gene classification: There is sufficient evidence (five unrelated cases) for promoting this gene to GREEN at the next major review.
PMID:35077597 reported five patients from three unrelated families identified with biallelic variants in COL25A1 gene. Of these four patients from three families had ocular congenital cranial dysinnervation disorder phenotype.
This gene has been associated with this phenotype in both OMIM and Gene2Phenotype (with 'strong' rating).Created: 28 Mar 2023, 1:45 p.m. | Last Modified: 28 Mar 2023, 1:48 p.m.
Panel Version: 1.13
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fibrosis of extraocular muscles, congenital, 5, OMIM:616219
Publications
Patients with CCDD - Initial family varaint Gly382Arg segregates with 4 affected sibs. Further 41 pts screened Gly497* and 12.4kb deletion ex4-10 identified in a patient with DRS.Created: 21 Mar 2019, 10:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fibrosis of extraocular muscles, congenital, 5 616219
Publications
PMID:25500261 reports a consanguineous family with a homozygous missense variant in COL25A1 and a second simplex compound heterozygote for a nonsense mutation and a 12.4 kb deletion spanning exons 4–10 of COL25A1. All affected individuals had features of congenital cranial dysinnervation disorder.
Sources: LiteratureCreated: 16 Feb 2019, 1:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fibrosis of extraocular muscles, congenital, 5
Publications
Tag Q1_23_promote_green tag was added to gene: COL25A1.
Publications for gene: COL25A1 were set to 25500261
Phenotypes for gene: COL25A1 were changed from Fibrosis of extraocular muscles, congenital, 5 616219; Fibrosis of extraocular muscles, congenital, 5 to Fibrosis of extraocular muscles, congenital, 5, OMIM:616219
Source Wessex and West Midlands GLH was added to COL25A1. Source Expert Review Amber was added to COL25A1. Added phenotypes Fibrosis of extraocular muscles, congenital, 5 616219 for gene: COL25A1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: COL25A1 was added gene: COL25A1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL25A1 were set to 25500261 Phenotypes for gene: COL25A1 were set to Fibrosis of extraocular muscles, congenital, 5 Review for gene: COL25A1 was set to AMBER