1. Panels
  2. Intellectual disability update Jan 2018
  3. COL4A6
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability update Jan 2018

Gene: COL4A6

Red List (low evidence)
COL4A6 (collagen type IV alpha 6 chain)
EnsemblGeneIds (GRCh38): ENSG00000197565
EnsemblGeneIds (GRCh37): ENSG00000197565
OMIM: 303631, Gene2Phenotype
COL4A6 is in 4 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on publications: Grozeva et al, 2015 list of candidate genes linked to ID
Created: 1 Mar 2018, 2:13 p.m.
Comment on list classification: Listed as a candidate gene in Grozeva et al, 2015 (PMID: 26350204) - several missense variants reported from cases with ID with varying predicted effects from benign to probably damaging. Gene not listed in their tables of genes with likely pathogenic LoF or missense variants.

Associated with ?Deafness, X-linked 6 (MIM 300914) in OMIM but no features of intellectual disability. Nothing in Gene2Phenotype or PubMed to suggest association with intellectual disability.
Created: 1 Mar 2018, 2:12 p.m.
Created: 1 Mar 2018, 12:41 p.m.

Panel version: 0.225

Details

Sources
  • Expert Review Red
Phenotypes
  • ?Deafness, X-linked 6 300914
OMIM
303631
Clinvar variants
Variants in COL4A6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for COL4A6 were set to ?Deafness, X-linked 6 300914

1 Mar 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for COL4A6 were set to 26350204

1 Mar 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for COL4A6 were set to 26350204

1 Mar 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A6 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

COL4A6 was created by Ellen McDonagh