Clefting
Gene: COL11A1EnsemblGeneIds (GRCh38): ENSG00000060718
EnsemblGeneIds (GRCh37): ENSG00000060718
OMIM: 120280, Gene2Phenotype
COL11A1 is in 16 panels
4 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, 3:21 p.m. | Last Modified: 3 Aug 2022, 3:21 p.m.
Panel Version: 2.69
Eleanor Williams (Genomics England Curator)
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 5 Mar 2022, 5:14 p.m. | Last Modified: 5 Mar 2022, 5:14 p.m.
Panel Version: 2.65
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review green, and more than 3 families reported for Stickler syndrome.Created: 16 Dec 2016, 3 p.m.
Usha Kini (Oxford Centre for Genomic Medicine)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stckler syndrome
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- 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)
- DDG2P
- Intellectual disability
- Stickler syndrome
- Osteogenesis imperfecta
- Clefting
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Monogenic hearing loss
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene COL11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COL11A1 were changed from Orofacial Clefting with skeletal features; Stickler Syndrome; Cleft palate to Marshall Syndrome, OMIM:154780; Stickler syndrome, type II, OMIM:604841
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to COL11A1. Panel: Clefting Phenotypes for gene COL11A1 were set to Orofacial Clefting with skeletal features, Stickler Syndrome, Cleft palate
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for COL11A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for COL11A1 were set to Orofacial Clefting with skeletal features; Stickler Syndrome
Upload gene information
Olivia Niblock (Genomics England Curator)COL11A1 was added to Cleftingpanel. Sources: Eligibility statement prior genetic testing
Set Phenotypes
Olivia Niblock (Genomics England Curator)Phenotypes for gene COL11A1 were set to Orofacial Clefting with skeletal features; Stickler Syndrome
Created
Olivia Niblock (Genomics England Curator)COL11A1 was created by oniblock
Added New Source
Olivia Niblock (Genomics England Curator)COL11A1 was added to Cleftingpanel. Sources: UKGTN