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Arthrogryposis

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 15 panels

0 reviews

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epiphyseal dysplasia, multiple, 3, 600969Epiphyseal dysplasia, multiple, with myopathy{Intervertebral disc disease, susceptibility to}, 603932
OMIM
120270
Clinvar variants
Variants in COL9A3
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

21 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL9A3 was created by ellenmcdonagh