COL9A3

collagen type IX alpha 3 chain
OMIM: 120270, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green COL9A3 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969 Stickler syndrome, type VI, MIM# 620022 Deafness AD Peripheral vitreoretinal degeneration and retinal detachment, AD
Amber COL9A3 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, 3, with or without myopathy MIM#600969
Green COL9A3 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 COL9A3 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 VI, MIM# 620022
Green COL9A3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Expert Expert Review Expert Review Green NHS GMS Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes MED Mutiple Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia, Dominant Epiphyseal dysplasia, multiple, with myopathy Stickler syndrome type VI multiple epiphyseal dysplasia multiple epiphyseal dysplasia 3, with or without myopathy - 600969
Amber COL9A3 in Vitreoretinopathy Level 2: Ophthalmological disoders Version 1.4 Component of the following Super Panels: Retinal Disorders Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Peripheral vitreoretinal degeneration and retinal detachment, AD
Green COL9A3 in Stickler Syndrome Level 2: Ophthalmological disoders Version 1.8 Component of the following Super Panels: Retinal Disorders Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Other Phenotypes Stickler syndrome, type VI, MIM# 620022 Deafness, AD Peripheral vitreoretinal degeneration and retinal detachment, AD
Green COL9A3 in Multiple epiphyseal dysplasia and pseudoachondroplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple Epiphyseal Dysplasia, Dominant Mutiple Epiphyseal Dysplasia Stickler syndrome type VI multiple epiphyseal dysplasia 3, with or without myopathy - 600969 MED multiple epiphyseal dysplasia Epiphyseal dysplasia, multiple, with myopathy
Green COL9A3 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
Green COL9A3 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Stickler syndrome
Amber COL9A3 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 Phenotypes Stickler syndrome, type VI, MIM# 620022
Green COL9A3 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy - MIM#600969 Stickler syndrome
Green COL9A3 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Stickler syndrome, type VI, MIM# 620022 Tags for review