COL11A2

collagen type XI alpha 2 chain
OMIM: 120290, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red COL11A2 in Multiple Epiphyseal Dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.7	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Phenotypes Stickler syndrome, type III, 184840 Otospondylomegaepiphyseal dysplasia, 215150 Weissenbacher-Zweymuller syndrome, 277610 Deafness, autosomal dominant 13, 601868 Deafness, autosomal recessive 53, 609706 Fibrochondrogenesis 2, 614524 Otospondylomegaepiphyseal Dysplasia
Red COL11A2 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 COL11A2 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 Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840 Otospondylomegaepiphyseal dysplasia, autosomal recessive, OMIM:215150
Red COL11A2 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 COL11A2 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 COL11A2 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 Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Stickler syndrome, type III 184840 Otospondylomegaepiphyseal dysplasia 215150 Fibrochondrogenesis 2 614524? Fibrochondrogenesis 2 614524 Weissenbacher-Zweymuller syndrome 277610
No list COL11A2 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 Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert list Phenotypes Stickler syndrome, type III, (AD),184840 Otospondylomegaepiphyseal dysplasia,(AR) 215150 Weissenbacher-Zweymuller syndrome, (AD), 277610 Fibrochondrogenesis 2, (AR,AD), 614524 Connective Tissue Disorders autosomal dominant otospondylomegaepiphyseal dysplasia OMIM 184840 autosomal recessive otospondylomegaepiphyseal dysplasia OMIM 215150 Tags curated_removed
Green COL11A2 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 WEISSENBACHER-ZWEYMUELLER SYNDROME DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA DEAFNESS AUTOSOMAL DOMINANT TYPE 13 STICKLER SYNDROME TYPE 3
Red COL11A2 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 Stickler Syndrome, Type III Otospondylomegaepiphyseal dysplasia 184840
Green COL11A2 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 WEISSENBACHER-ZWEYMUELLER SYNDROME 184840 AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150 DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868 STICKLER SYNDROME TYPE 3 184840 DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706
Green COL11A2 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes hearing loss #184840:Stickler syndrome, type III #215150:Otospondylomegaepiphyseal dysplasia #277610:Weissenbacher-Zweymuller syndrome #601868:Deafness, autosomal dominant 13 #609706:Deafness, autosomal recessive 53 #614524: Fibrochondrogenesis 2 Nonsyndromic Hearing Loss, Dominant
Green COL11A2 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 Radboud University Medical Center, Nijmegen Expert Review Green Eligibility statement prior genetic testing UKGTN Phenotypes Stickler syndrome, type III STICKLER SYNDROME, NONOCULAR TYPE OSMED STL3 Non-ocular Stickler syndrome Cleft palate
Red COL11A2 in Intellectual disability Level 2: Developmental disorders Version 9.281 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 Gene2Phenotype confirmed gene with ID HPO
Red COL11A2 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	Not set	Sources NHS GMS Expert Review Red Phenotypes Eye Disorders
Red COL11A2 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Eye Disorders