Clefting
Gene: COL9A1

COL9A1 (collagen type IX alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000112280
EnsemblGeneIds (GRCh37): ENSG00000112280
OMIM: 120210, Gene2Phenotype
COL9A1 is in 15 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment 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 16909383
Created: 23 Jan 2017, 3:50 p.m.

Created: 23 Jan 2017, 3:50 p.m.

Panel version: 0.81

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal recessive Stickler syndrome

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Dec 2016, 10:32 a.m.

Panel version: 0.35

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Stickler syndrome, type IV, OMIM:614134

OMIM

120210

Clinvar variants

Variants in COL9A1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

27 Oct 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

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

31 May 2017, Gel status: 4