COL2A1

collagen type II alpha 1 chain
OMIM: 120140, Gene2Phenotype

19 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 19 panels
Red COL2A1 in Multiple Epiphyseal Dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.7	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Multiple epiphyseal dysplasiais Stickler syndrome, type I, 108300 Kniest dysplasia, 156550 Achondrogenesis, type II or hypochondrogenesis, 200610 SED congenita, 183900 SMED Strudwick type, 184250 Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 Spondyloperipheral dysplasia, 271700 SED, Namaqualand type Osteoarthritis with mild chondrodysplasia, 604864 Vitreoretinopathy with phalangeal epiphyseal dysplasia Platyspondylic skeletal dysplasia, Torrance type, 151210 Otospondylomegaepiphyseal dysplasia, 215150 Avascular necrosis of the femoral head, 608805 Legg-Calve-Perthes disease, 150600 Stickler sydrome, type I, nonsyndromic ocular, 609508 Czech dysplasia, 609162
Red COL2A1 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources Expert Review Amber NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
No list COL2A1 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Achondrogenesis, type II or hypochondrogenesis, MIM#200610
Green COL2A1 in Limb disorders Level 2: Musculoskeletal Version 7.20 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Platyspondylic skeletal dysplasia, Torrance type 151210 Achondrogenesis, type II or hypochondrogenesis 200610 Spondyloperipheral dysplasia 271700
Green COL2A1 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Phenotypes Confirmed DD gene for Stickler syndrome type I non-syndromic ocular Stickler syndrome
Red COL2A1 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.182	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes Avascular necrosis of the femoral head feature of hereditary thrombophilia Legg-Calve-Perthes disease
Green COL2A1 in Stickler syndrome Level 2: Ophthalmology Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Stickler syndrome, type I, OMIM:108300
Red COL2A1 in Thoracic aortic aneurysm or dissection (GMS) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH South West GLH
Red COL2A1 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.129	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Expert list
Green COL2A1 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 Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Epiphyseal dysplasia, multiple, with myopia and deafness 132450 Spondyloepiphyseal dysplasia, Stanescu type 616583 Stickler sydrome, type I, nonsyndromic ocular 609508 Achondrogenesis, type II or hypochondrogenesis 200610 Kniest dysplasia 156550 Legg-Calve-Perthes disease 150600 Otospondylomegaepiphyseal dysplasia 215150 Stickler syndrome, type I 108300 SMED Strudwick type 184250 Spondyloperipheral dysplasia 271700 Platyspondylic skeletal dysplasia, Torrance type 151210 Czech dysplasia 609162 SED congenita 183900 Osteoarthritis with mild chondrodysplasia 604864 Avascular necrosis of the femoral head 608805
No list COL2A1 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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed NHS GMS Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Expert list Phenotypes Stickler syndrome, type I, 108300 Connective Tissue Disorders Kniest dysplasia, 156550 Achondrogenesis, type II or hypochondrogenesis, 200610 SED congenita, 183900 SMED Strudwick type, 184250 Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 Tags curated_removed
Green COL2A1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE SPONDYLOPERIPHERAL DYSPLASIA STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE ACHONDROGENESIS TYPE 2 RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA KNIEST DYSPLASIA
Red COL2A1 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Stickler syndrome, type I, 108300 Kniest dysplasia, 156550 Achondrogenesis, type II or hypochondrogenesis, 200610 SED congenita, 183900 SMED Strudwick type, 184250 Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 Spondyloperipheral dysplasia, 271700 SED, Namaqualand type Osteoarthritis with mild chondrodysplasia, 604864 Vitreoretinopathy with phalangeal epiphyseal dysplasia Platyspondylic skeletal dysplasia, Torrance type, 151210 Otospondylomegaepiphyseal dysplasia, 215150 Avascular necrosis of the femoral head, 608805 Legg-Calve-Perthes disease, 150600 Stickler sydrome, type I, nonsyndromic ocular, 609508 Czech dysplasia, 609162 Disproportionate Short Stature
Green COL2A1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes ACHONDROGENESIS TYPE 2 200610 PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE 151210 SPONDYLOPERIPHERAL DYSPLASIA 271700 PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805 SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE 184250 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 183900 RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT 609508 KNIEST DYSPLASIA 156550 STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508
Green COL2A1 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 Stickler syndrome, type I, OMIM:108300
Green COL2A1 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 STICKLER SYNDROME, TYPE I (STL1), 108300 Orofacial Clefting with skeletal features Stickler Syndrome Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss) Stickler sydrome, type I, non syndromic ocular STICKLER SYNDROME, VITREOUS TYPE 1 STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM STICKLER SYNDROME, TYPE I STL1 Cleft palate
Red COL2A1 in Intellectual disability Level 2: Developmental disorders Version 9.280 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Stickler syndrome, type I, 108300 Kniest dysplasia, 156550 Achondrogenesis, type II or hypochondrogenesis, 200610 SED congenita, 183900 SMED Strudwick type, 184250 Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 Spondyloperipheral dysplasia, 271700 SED, Namaqualand type Osteoarthritis with mild chondrodysplasia, 604864 Vitreoretinopathy with phalangeal epiphyseal dysplasia Platyspondylic skeletal dysplasia, Torrance type, 151210 Otospondylomegaepiphyseal dysplasia, 215150 Avascular necrosis of the femoral head, 608805 Legg-Calve-Perthes disease, 150600 Stickler sydrome, type I, nonsyndromic ocular, 609508 Czech dysplasia, 609162
Green COL2A1 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Epiphyseal dysplasia, multiple, with myopia and deafness, OMIM:132450 Vitreoretinopathy with phalangeal epiphyseal dysplasia, OMIM:619248 Kniest dysplasia, OMIM:156550 SED congenita, OMIM:183900 Stickler syndrome, type I, OMIM:108300 Stickler syndrome, type I, nonsyndromic ocular, OMIM:609508
Amber COL2A1 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 Expert Review Amber NHS GMS Phenotypes Epiphyseal dysplasia, multiple, with myopia and deafness Eye Disorders SED congenita Kniest dysplasia, 156550 Stickler syndrome, type I, 108300 Stickler sydrome, type I, nonsyndromic ocular, 609508 Vitreoretinopathy with phalangeal epiphyseal dysplasia

COL2A1

19 panels

Red COL2A1 in Multiple Epiphyseal Dysplasia

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Phenotypes

Red COL2A1 in Glaucoma (developmental)

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Phenotypes

No list COL2A1 in Fetal hydrops

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Phenotypes

Green COL2A1 in Limb disorders

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Phenotypes

Green COL2A1 in Bilateral congenital or childhood onset cataracts

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Phenotypes

Red COL2A1 in Inherited bleeding disorders

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Phenotypes

Green COL2A1 in Stickler syndrome

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Phenotypes

Red COL2A1 in Thoracic aortic aneurysm or dissection (GMS)

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Red COL2A1 in Thoracic aortic aneurysm or dissection

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Green COL2A1 in Skeletal dysplasia

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Phenotypes

No list COL2A1 in Ehlers Danlos syndrome with a likely monogenic cause

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Phenotypes

Tags

Green COL2A1 in Fetal anomalies

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Phenotypes

Red COL2A1 in Osteogenesis imperfecta

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Phenotypes

Green COL2A1 in DDG2P

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Phenotypes

Green COL2A1 in Monogenic hearing loss

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Phenotypes

Green COL2A1 in Clefting

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Phenotypes

Red COL2A1 in Intellectual disability

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Phenotypes

Green COL2A1 in Retinal disorders

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Phenotypes

Amber COL2A1 in Structural eye disease

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Phenotypes