Fetal anomalies
Gene: COL2A1

COL2A1 (collagen type II alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 19 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional evidence from PMID:30712878: De novo variant identified in COL2A1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).
Created: 18 Apr 2019, 3:57 p.m.

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.

DDG2P rating in original PAGE list: Confirmed for KNIEST DYSPLASIA, Confirmed for ACHONDROGENESIS TYPE 2, Confirmed for PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE, Confirmed for STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR, Confirmed for SPONDYLOPERIPHERAL DYSPLASIA, Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE, Confirmed for RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT and Confirmed for SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA.
Created: 11 Dec 2018, 9:04 a.m.

In the original PAGE file, MOP listed as Dominant negative for KNIEST DYSPLASIA and ACHONDROGENESIS TYPE 2. MOP listed as LOF for PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE, STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR, SPONDYLOPERIPHERAL DYSPLASIA and RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT. MOP listed as All missense/in frame for SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE. MOP listed as Uncertain for SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA.
Created: 8 Nov 2018, 4:45 p.m.

Publications

30712878

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.186

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE
SPONDYLOPERIPHERAL DYSPLASIA
STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR
PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE
ACHONDROGENESIS TYPE 2
RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
KNIEST DYSPLASIA

OMIM

120140

Clinvar variants

Variants in COL2A1

Penetrance

None

Panels with this gene