Cataracts

Gene: COL4A1

Green List (high evidence)

COL4A1 (collagen type IV alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000187498
EnsemblGeneIds (GRCh37): ENSG00000187498
OMIM: 120130, Gene2Phenotype
COL4A1 is in 26 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Phenotypes
Brain small vessel disease with or without ocular anomalies

Publications

  • Shah et al (2012) Dev Med Child Neurol 54:569-574
  • Deml et al (2014) Clin Genet 86:475-481

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on mode of inheritance: Confirmed in publications.
Created: 31 May 2016, 8:37 a.m.
Comment on list classification: Promoted to green due to expert review and evidence provided.
Created: 31 May 2016, 8:36 a.m.
Comment on mode of inheritance: Source: G2P and PMID: 24628545.
Created: 25 May 2016, 10:38 a.m.
Is on the Manchester congenital cataracts gene panel for the association Brain small vessel disease with Axenfeld-Rieger anomaly. Is a "Both DD and IF" gene in G2P for porencephaly 1.
Created: 29 Apr 2016, 10:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

History Filter Activity

31 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).

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL4A1 were set to Brain small vessel disease with or without ocular anomalies; complex ocular phenotypes involving microphthalmia; Congenital cataracts

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

31 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).

25 May 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL4A1 were set to Shah et al (2012) Dev Med Child Neurol 54:569-574; Deml et al (2014) Clin Genet 86:475-481

25 May 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL4A1 were set to Brain small vessel disease with or without ocular anomalies

25 May 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

COL4A1 was added to Cataractspanel. Sources: UKGTN