1. Panels
  2. BRIDGE_SPEED_NEURO_20170705
  3. COL4A3BP
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BRIDGE_SPEED_NEURO_20170705

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: 0.201
Created: 20 Jun 2019, 3:40 p.m.
Last Modified: 20 Jun 2019, 3:40 p.m.
Panel version: 0.201

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Activating
Created: 28 Jul 2017, 8:57 a.m.

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

Publications

Mode of pathogenicity
Other

Created: 2 Aug 2017, 2:06 p.m.

Panel version: 0.191

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Intellectual Disability
Tags
new-gene-name
OMIM
604677
Clinvar variants
Variants in COL4A3BP
Penetrance
Complete
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.

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

COL4A3BP was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

COL4A3BP was created by LouiseD