Congenital myopathy
Gene: COL25A1Comment on list classification: As per expert review by Anna Sarkozy (Great Ormond Street Hospital), the condition caused by biallelic variants in this gene has overlap in clinical presentations with other forms of myopathies. Hence, this gene should be considered for promotion to green at the next major review.Created: 28 Mar 2023, 5:21 p.m. | Last Modified: 28 Mar 2023, 5:21 p.m.
Panel Version: 4.9
pathogenic recessive variants (missense and splice site) in the COL25A1 gene have now been described in three unrelated families (5 patients in total) presenting with arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder, normal CK and absence of abnormalities on EMG. Given similarities of presentations with other forms of myopathic contractural phenotypes and no/mild progression over time, this condition should be considered in differential for congenital myopathies, thus we would recommend to add this gene as green gene into the R81 panel.
Sources: Expert list, Literature, Expert Review, ResearchCreated: 24 Mar 2023, 10:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
rthrogryposis multiplex congenita with or without ocular congenital cranial dysinnervation disorder
Publications
Mode of pathogenicity
Other
Tag Q1_23_NHS_review tag was added to gene: COL25A1.
Tag Q1_23_promote_green tag was added to gene: COL25A1.
Phenotypes for gene: COL25A1 were changed from rthrogryposis multiplex congenita with or without ocular congenital cranial dysinnervation disorder to Arthrogryposis multiplex congenita with or without ocular congenital cranial dysinnervation disorder
Publications for gene: COL25A1 were set to PMID: 35077597
Gene: col25a1 has been classified as Amber List (Moderate Evidence).
gene: COL25A1 was added gene: COL25A1 was added to Congenital myopathy. Sources: Expert list,Literature,Expert Review,Research Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL25A1 were set to PMID: 35077597 Phenotypes for gene: COL25A1 were set to rthrogryposis multiplex congenita with or without ocular congenital cranial dysinnervation disorder Penetrance for gene: COL25A1 were set to unknown Mode of pathogenicity for gene: COL25A1 was set to Other Review for gene: COL25A1 was set to GREEN