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  2. Intellectual_disability
  3. COL4A3BP
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Intellectual_disability

Gene: COL4A3BP

Red List (low evidence)
COL4A3BP (collagen type IV alpha 3 binding protein)
EnsemblGeneIds (GRCh38): ENSG00000113163
EnsemblGeneIds (GRCh37): ENSG00000113163
OMIM: 604677, Gene2Phenotype
COL4A3BP is in 4 panels

1 review

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for COL4A3BP is CERT1
Created: 20 Jun 2019, 3:40 p.m. | Last Modified: 20 Jun 2019, 3:40 p.m.
Panel Version: 0.1178
Created: 20 Jun 2019, 3:40 p.m.
Last Modified: 20 Jun 2019, 3:40 p.m.
Panel version: 0.1178

Details

Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
new-gene-name
OMIM
604677
Clinvar variants
Variants in COL4A3BP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Jun 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: COL4A3BP.

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COL4A3BP was added to Intellectual_disabilitypanel. Sources: Candidate gene (Grozeva et al, 2015)