Fetal anomalies
Gene: COL11A2

COL11A2 (collagen type XI alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000204248
EnsemblGeneIds (GRCh37): ENSG00000204248
OMIM: 120290, Gene2Phenotype
COL11A2 is in 15 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

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 AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, Confirmed for DEAFNESS AUTOSOMAL DOMINANT TYPE 13, Confirmed for DEAFNESS AUTOSOMAL RECESSIVE TYPE 53, Confirmed for STICKLER SYNDROME TYPE 3 and Confirmed for WEISSENBACHER-ZWEYMUELLER SYNDROME.
Created: 11 Dec 2018, 9:04 a.m.

In the original PAGE file, MOP listed as Dominant negative for AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, STICKLER SYNDROME TYPE 3 and WEISSENBACHER-ZWEYMUELLER SYNDROME, and listed as All missense/in frame for DEAFNESS AUTOSOMAL DOMINANT TYPE 13 and DEAFNESS AUTOSOMAL RECESSIVE TYPE 53.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

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

Panel version: 0.134

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

WEISSENBACHER-ZWEYMUELLER SYNDROME
DEAFNESS AUTOSOMAL RECESSIVE TYPE 53
AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA
DEAFNESS AUTOSOMAL DOMINANT TYPE 13
STICKLER SYNDROME TYPE 3

OMIM

120290

Clinvar variants

Variants in COL11A2

Penetrance

None

Panels with this gene