COL9A1

collagen type IX alpha 1 chain
OMIM: 120210, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Amber COL9A1 in Cataract Level 2: Ophthalmological disorders Version 0.366	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Stickler syndrome, type IV, MIM#614134
Green COL9A1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Stickler syndrome, type IV, MIM# 614134
Green COL9A1 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 COL9A1 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 IV, MIM#614134
Green COL9A1 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 Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Emory Genetics Laboratory Phenotypes Stickler syndrome, type IV 614134 Epiphyseal dysplasia, multiple, 6 614135
Green COL9A1 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 IV, MIM# 614134
Red COL9A1 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 Red Victorian Clinical Genetics Services Phenotypes Epiphyseal dysplasia, multiple, 6 614135
Green COL9A1 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 IV, MIM#614134
Green COL9A1 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 IV, MIM#614134
Green COL9A1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen UKGTN Expert Review Green Phenotypes Autosomal recessive Stickler syndrome Stickler syndrome, type IV (ophthalmological: myopia, retinal detachment and cataracts, orofacial: micrognathia, midface hypoplasia and cleft palate, auditory:sensorineural hearing loss and articular: epiphyseal dysplasia) symptoms Orofacial Clefting with skeletal features Cleft palate
Green COL9A1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Stickler syndrome, type IV, MIM# 614134
Green COL9A1 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 IV, MIM#614134 Tags treatable ophthalmological