Bilateral congenital or childhood onset cataracts
Gene: COL11A1The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.Created: 3 Aug 2022, 3:20 p.m. | Last Modified: 3 Aug 2022, 3:20 p.m.
Panel Version: 2.110
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 11:31 a.m. | Last Modified: 9 Mar 2022, 11:31 a.m.
Panel Version: 2.102
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Marshall Syndrome; Stickler syndrome
Variants in this GENE are reported as part of current diagnostic practice
Gene added from the Manchester congenital cataracts gene panel. Mode of inheritance from Gene2Phenotype and OMIM, for the phenotypes indidated on the Manchester panel. It is a confirmed DD gene for Stickler syndrome Type II, which includes cataract as a phenotype, and have multiple cases reported in OMIM for an association with Marshall syndrome or Stickler syndrome.Created: 29 Apr 2016, 2:54 p.m.
Mode of inheritance for gene COL11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL11A1 were changed from Marshall Syndrome; Stickler syndrome to Marshall Syndrome, OMIM:154780; Stickler syndrome, type II, OMIM:604841
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
COL11A1 was added to Cataractspanel. Sources: Expert list
COL11A1 was created by ellenmcdonagh