Bilateral congenital or childhood onset cataracts
Gene: COL11A1EnsemblGeneIds (GRCh38): ENSG00000060718
EnsemblGeneIds (GRCh37): ENSG00000060718
OMIM: 120280, Gene2Phenotype
COL11A1 is in 16 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.Created: 3 Aug 2022, 3:20 p.m. | Last Modified: 3 Aug 2022, 3:20 p.m.
Panel Version: 2.110
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 11:31 a.m. | Last Modified: 9 Mar 2022, 11:31 a.m.
Panel Version: 2.102
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Marshall Syndrome; Stickler syndrome
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Gene added from the Manchester congenital cataracts gene panel. Mode of inheritance from Gene2Phenotype and OMIM, for the phenotypes indidated on the Manchester panel. It is a confirmed DD gene for Stickler syndrome Type II, which includes cataract as a phenotype, and have multiple cases reported in OMIM for an association with Marshall syndrome or Stickler syndrome.Created: 29 Apr 2016, 2:54 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Marshall Syndrome, OMIM:154780
- Stickler syndrome, type II, OMIM:604841
- OMIM
- 120280
- Clinvar variants
- Variants in COL11A1
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- DDG2P
- Skeletal dysplasia
- Retinal disorders
- Clefting
- Structural eye disease
- Fetal anomalies
- Stickler syndrome
- Osteogenesis imperfecta
- Thoracic aortic aneurysm or dissection
- Monogenic hearing loss
- Ehlers Danlos syndrome with a likely monogenic cause
- Glaucoma (developmental)
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene COL11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COL11A1 were changed from Marshall Syndrome; Stickler syndrome to Marshall Syndrome, OMIM:154780; Stickler syndrome, type II, OMIM:604841
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)COL11A1 was added to Cataractspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)COL11A1 was created by ellenmcdonagh