Clefting
Gene: COL9A1Comment on list classification: Promoted gene status from Amber to Green due to expert review and evidence in three unrelated individuals.Created: 23 Jan 2017, 4:42 p.m.
Comment on publications: added evidence, at least 3 unrelated cases with Stickler syndrome, type IV.
A novel, homozygous nonsense mutation (p.R507X) was detected in two Turkish sisters, and a previously reported homozygous nonsense mutation (p.R295X) was found in a Moroccan boy (PMID:21421862), the latter was the same mutation found in another consanguineous Moroccan family (PMID:16909383).Created: 23 Jan 2017, 4:41 p.m.
Comment on phenotypes: updated phenotypes based on reviewer suggestion and further investigation.Created: 23 Jan 2017, 3:55 p.m.
Comment on mode of inheritance: Updated MOI due to reviewer suggestion and PMID 16909383Created: 23 Jan 2017, 3:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive Stickler syndrome
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: COL9A1 were changed from 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; Autosomal recessive Stickler syndrome; Orofacial Clefting with skeletal features; Cleft palate to Stickler syndrome, type IV, OMIM:614134
Victorian Clinical Genetics Services was added to COL9A1. Panel: Clefting Phenotypes for gene COL9A1 were set to 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, Autosomal recessive Stickler syndrome, Orofacial Clefting with skeletal features, Cleft palate
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
This gene has been classified as Green List (High Evidence).
Publications for COL9A1 were set to 16909383; 21421862
Phenotypes for COL9A1 were set to 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; Autosomal recessive Stickler syndrome; Orofacial Clefting with skeletal features
Phenotypes for COL9A1 were set to Stickler syndrome, type IV (opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms); Autosomal recessive Stickler syndrome; Orofacial Clefting with skeletal features
Mode of inheritance for COL9A1 was changed to BIALLELIC, autosomal or pseudoautosomal
COL9A1 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen
Model of inheritance for gene COL9A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COL9A1 was added to Cleftingpanel. Sources: UKGTN
COL9A1 was created by oniblock