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  3. COL4A3BP
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Fetal anomalies

Gene: COL4A3BP

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

2 reviews

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: 0.285
Created: 20 Jun 2019, 3:40 p.m.
Last Modified: 20 Jun 2019, 3:40 p.m.
Panel version: 0.285

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DISABILITY
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as Activating.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.134

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
new-gene-name
OMIM
604677
Clinvar variants
Variants in COL4A3BP
Penetrance
None
Panels with this gene

History Filter Activity

20 Jun 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

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

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: COL4A3BP was added gene: COL4A3BP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL4A3BP were set to INTELLECTUAL DISABILITY