COL9A2

collagen type IX alpha 2 chain
OMIM: 120260, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red COL9A2 in Cataract Level 2: Ophthalmological disorders Version 0.366	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Stickler syndrome, type V, MIM# 614284
Green COL9A2 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type V MIM#614284' Epiphyseal dysplasia, multiple, 2 MIM#600204
Amber COL9A2 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Epiphyseal dysplasia, multiple, 2 MIM#600204
Green COL9A2 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 COL9A2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type V, MIM# 614284
Green COL9A2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Emory Genetics Laboratory Phenotypes Stickler syndrome, type V, 614284 Epiphyseal dysplasia, multiple, 2 600204 Stickler syndrome, type V 614284 {Intervertebral disc disease, susceptibility to}, 603932
Green COL9A2 in Stickler Syndrome Level 2: Ophthalmological disoders Version 1.8 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type V, MIM# 614284
Green COL9A2 in Multiple epiphyseal dysplasia and pseudoachondroplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.11	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epiphyseal dysplasia, multiple, 2 600204 Stickler syndrome, type V, 614284 Stickler syndrome, type V 614284 {Intervertebral disc disease, susceptibility to}, 603932
Green COL9A2 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.63	review	BIALLELIC, autosomal or pseudoautosomal	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 V, MIM# 614284
Green COL9A2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Stickler syndrome, type V, MIM# 614284
Amber COL9A2 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Stickler syndrome, type V, MIM# 614284
Green COL9A2 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Stickler syndrome, type V, MIM# 614284
Green COL9A2 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Stickler syndrome, type V, MIM# 614284 Tags treatable ophthalmological