Congenital myopathy

Gene: COL9A3

Red List (low evidence)

COL9A3 (collagen type IX alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000092758
EnsemblGeneIds (GRCh37): ENSG00000092758
OMIM: 120270, Gene2Phenotype
COL9A3 is in 16 panels

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969

Publications

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: MED presentation; appropriate for skeletal panel
Created: 3 Feb 2017, 11:50 a.m.
Comment on list classification: Presents with MED. One family with additional muscle phenotype
Created: 3 Feb 2017, 11:48 a.m.
Mutations to date in 4 unrelated families with MED have involved in frame deletions (skipping of exon 3). One family reported with a myopathic phenotype in addition, however an unrelated family with the same mutation only had MED. Insufficient evidence for congenital myopathy.
Created: 30 Jan 2017, 2:55 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969
OMIM
120270
Clinvar variants
Variants in COL9A3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 1

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Feb 2017, Gel status: 1

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for COL9A3 were set to Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969

3 Feb 2017, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for COL9A3 were set to 10655510; 10678658

3 Feb 2017, Gel status: 1

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for COL9A3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

COL9A3 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen