COL2A1

collagen type II alpha 1 chain
OMIM: 120140, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green COL2A1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Collagenopathy type 2 alpha 1, MONDO:0022800
Green COL2A1 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Stickler syndrome, type I MIM#108300
Green COL2A1 in Cataract Level 2: Ophthalmological disorders Version 0.366	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green COL2A1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Achondrogenesis, type II or hypochondrogenesis, MIM#200610
Green COL2A1 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Achondrogenesis, type II or hypochondrogenesis 200610 Avascular necrosis of the femoral head 608805 Czech dysplasia 609162 Epiphyseal dysplasia, multiple, with myopia and deafness 132450 Kniest dysplasia 156550 Legg-Calve-Perthes disease 150600 Osteoarthritis with mild chondrodysplasia 604864 Platyspondylic skeletal dysplasia, Torrance type 151210 SED congenita 183900 SMED Strudwick type 184250 Spondyloepiphyseal dysplasia, Stanescu type 616583 Spondyloperipheral dysplasia 271700 Stickler sydrome, type I, nonsyndromic ocular 609508 Stickler syndrome, type I 108300 Vitreoretinopathy with phalangeal epiphyseal dysplasia
Green COL2A1 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 0.47	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green COL2A1 in Short Long Bones with Advanced Carpal Bone Age Level 2: Skeletal disorders Version 0.1	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green COL2A1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type I, MIM108300
Green COL2A1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green UKGTN Radboud University Medical Center, Nijmegen NHS GMS Phenotypes Osteoarthritis with mild chondrodysplasia 604864 Czech dysplasia 609162 SMED Strudwick type 184250 Spondyloepiphyseal dysplasia, Stanescu type 616583 Epiphyseal dysplasia, multiple, with myopia and deafness 132450 SED congenita 183900 Otospondylomegaepiphyseal dysplasia 215150 Stickler syndrome, type I 108300 Stickler sydrome, type I, nonsyndromic ocular 609508 Kniest dysplasia 156550 Platyspondylic skeletal dysplasia, Torrance type 151210 Spondyloperipheral dysplasia 271700 Achondrogenesis, type II or hypochondrogenesis 200610 Legg-Calve-Perthes disease 150600 Avascular necrosis of the femoral head 608805
Green COL2A1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.209 Component of the following Super Panels: Retinal Disorders Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources RetNet Expert Review Green Phenotypes Stickler syndrome, type I
Green COL2A1 in Stickler Syndrome Level 2: Ophthalmological disoders Version 1.8 Component of the following Super Panels: Retinal Disorders Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type I, MIM# 108300
Amber COL2A1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Spondyloperipheral dysplasia, MIM #271700
Green COL2A1 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.63	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type I, MIM108300
Green COL2A1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Stickler syndrome
Green COL2A1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Victorian Clinical Genetics Services UKGTN Expert Review Green Phenotypes STL1 Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss) Stickler sydrome, type I, non syndromic ocular Cleft palate STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM STICKLER SYNDROME, TYPE I Orofacial Clefting with skeletal features Stickler Syndrome STICKLER SYNDROME, TYPE I (STL1), 108300 STICKLER SYNDROME, VITREOUS TYPE 1
Green COL2A1 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Collagenopathy type 2 alpha 1, MONDO:0022800
Amber COL2A1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Amber Phenotypes Spondyloperipheral dysplasia, MIM #271700
Green COL2A1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene Phenotypes Stickler syndrome, type I, MIM# 108300 Tags treatable ophthalmological