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Cataracts

Gene: COL11A1

Green List (high evidence)

COL11A1 (collagen type XI alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000060718
EnsemblGeneIds (GRCh37): ENSG00000060718
OMIM: 120280, Gene2Phenotype
COL11A1 is in 18 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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.

History Filter Activity

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COL11A1 was added to Cataractspanel. Sources: Expert list

29 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL11A1 was created by ellenmcdonagh