Stickler syndrome
Gene: COL11A1EnsemblGeneIds (GRCh38): ENSG00000060718
EnsemblGeneIds (GRCh37): ENSG00000060718
OMIM: 120280, Gene2Phenotype
COL11A1 is in 16 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previous phenotypes:
Stickler syndrome, type II, 604841;Retinitis pigmentosa 45, 613767;Achromatopsia-3, 262300{Autism susceptibility 15}, 612100;Marshall syndrome, 154780;{Lumbar disc herniation, susceptibility to}, 603932;Fibrochondrogenesis, 228520Created: 3 Mar 2021, 4:18 p.m. | Last Modified: 3 Mar 2021, 4:18 p.m.
Panel Version: 2.4
Caroline Wright (Genomics England Curator)
Comment when marking as ready: DDG2P: monoallelic, dominant negativeCreated: 17 Dec 2015, 12:59 p.m.
allan richards (University of Cambridge)
Splice site mutations and missense substitutions of Glycines within the repeating Gly-Xaa-Yaa amino acid sequence of the collagen are pathogenicCreated: 16 Oct 2015, 10:29 a.m.
There are rare biallelic recessive forms of Stickler syndrome type II and Marshall syndromeCreated: 16 Oct 2015, 8:23 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Stickler type II; Marshall Syndrome; Fibrochondrogenesis
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Stickler syndrome, type II, OMIM:604841
- Marshall syndrome, OMIM:154780
- OMIM
- 120280
- Clinvar variants
- Variants in COL11A1
- Penetrance
- Complete
- Publications
- 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 Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, OMIM:604841 to Stickler syndrome, type II, OMIM:604841; Marshall syndrome, OMIM:154780
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, 604841 to Stickler syndrome, type II, OMIM:604841
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: COL11A1 were changed from Stickler syndrome, type II, 604841; Retinitis pigmentosa 45, 613767; Achromatopsia-3, 262300{Autism susceptibility 15}, 612100; Marshall syndrome, 154780; {Lumbar disc herniation, susceptibility to}, 603932; Fibrochondrogenesis, 228520 to Stickler syndrome, type II, 604841
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for COL11A1 were set to Stickler syndrome, type II, 604841; Retinitis pigmentosa 45, 613767; Achromatopsia-3, 262300{Autism susceptibility 15}, 612100; Marshall syndrome, 154780; {Lumbar disc herniation, susceptibility to}, 603932; Fibrochondrogenesis, 228520
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for COL11A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set publications
Caroline Wright (Genomics England Curator)Publications for COL11A1 were set to 10573014; 23922384;20513134;8872475
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Caroline Wright (Genomics England Curator)Publications for COL11A1 were set to 10573014
Added New Source
Ellen McDonagh (Genomics England Curator)COL11A1 was added to Stickler syndromepanel. Sources: Eligibility statement prior genetic testing
Added New Source
Eik Haraldsdottir (Genomics England)COL11A1 was added to Stickler syndromepanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)COL11A1 was added to Stickler syndromepanel. Sources: Radboud University Medical Center, Nijmegen