GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: COL9A1

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple epiphyseal dysplasia & pseudoachondroplasia gp of SD. At least 3 cases reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epiphyseal dysplasia, multiple, 6 614135; Stickler syndrome, type IV 614134

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Stickler syndrome, type IV 614134
Epiphyseal dysplasia, multiple, 6 614135

OMIM

120210

Clinvar variants

Variants in COL9A1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: COL9A1 was added gene: COL9A1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: COL9A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV 614134; Epiphyseal dysplasia, multiple, 6 614135

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: COL9A1