COL11A1

collagen type XI alpha 1 chain
OMIM: 120280, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Red COL11A1 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Green COL11A1 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Marshall Syndrome, OMIM:154780 Stickler syndrome, type II, OMIM:604841
Green COL11A1 in Stickler syndrome Level 2: Ophthalmology Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	review	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
Red COL11A1 in Thoracic aortic aneurysm or dissection (GMS) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH South West GLH
Red COL11A1 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.129	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Expert list
Green COL11A1 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen Phenotypes Stickler syndrome, type II, OMIM:604841 Marshall syndrome, OMIM:154780 Fibrochondrogenesis 1, OMIM:228520
No list COL11A1 in Ehlers Danlos syndrome with a likely monogenic cause Level 2: Musculoskeletal Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Removed NHS GMS UKGTN Radboud University Medical Center, Nijmegen Expert list Emory Genetics Laboratory Phenotypes Stickler syndrome, type II, 604841 Connective Tissue Disorders Marshall syndrome, 154780 Fibrochondrogenesis, 228520 Tags curated_removed
Green COL11A1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes FIBROCHONDROGENESIS STICKLER SYNDROME, TYPE II
Red COL11A1 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469
Red COL11A1 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources NHS GMS Expert Review Red Emory Genetics Laboratory Phenotypes Disproportionate Short Stature ibrochondrogenesis 1228520 Stickler syndrome, type II 604841 Marshall Syndrome 154780
Green COL11A1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes STICKLER SYNDROME, TYPE II 604841 FIBROCHONDROGENESIS 228520
Green COL11A1 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Deafness, autosomal dominant 37, OMIM:618533 Stickler syndrome, type II, OMIM:604841
Green COL11A1 in Clefting Level 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	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
Red COL11A1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Stickler syndrome, type II, 604841 Marshall syndrome, 154780 {Lumbar disc herniation, susceptibility to}, 603932 Fibrochondrogenesis, 228520
Green COL11A1 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Stickler syndrome, type II, OMIM:604841 Marshall syndrome, OMIM:154780
Red COL11A1 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Red Phenotypes Marshall syndrome, 154780 Stickler syndrome, type II, 604841 Eye Disorders