Arthrogryposis
Gene: COL25A1
COL25A1 (collagen type XXV alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000188517
EnsemblGeneIds (GRCh37): ENSG00000188517
OMIM: 610004, Gene2Phenotype
COL25A1 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000188517
EnsemblGeneIds (GRCh37): ENSG00000188517
OMIM: 610004, Gene2Phenotype
COL25A1 is in 4 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
6 cases from 4 unrelated families with AMC as a feature of the phenotype
PMID: 35077597 - 5 patients from 3 unrelated families with biallelic missense and splice site COL25A1 variants presenting with arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder phenotype
PMID: 26437029 - Patient: 273182 in DECIPHER with compound het missense variants. Phenotype includes Congenital finger flexion contractures, Contracture of the distal interphalangeal joint of the 2nd finger, Duane anomaly
Sources: LiteratureCreated: 4 Feb 2022, 5:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
arthrogryposis multiplex congenita MONDO:0015168
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- arthrogryposis multiplex congenita MONDO:0015168
- OMIM
- 610004
- Clinvar variants
- Variants in COL25A1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
4 Feb 2022, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: col25a1 has been classified as Green List (High Evidence).
4 Feb 2022, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: col25a1 has been classified as Green List (High Evidence).
4 Feb 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: COL25A1 was added gene: COL25A1 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL25A1 were set to 35077597; 26437029 Phenotypes for gene: COL25A1 were set to arthrogryposis multiplex congenita MONDO:0015168 Review for gene: COL25A1 was set to GREEN