1. Panels
  2. Early onset or syndromic epilepsy
  3. COL4A3BP
Genes in panel
Prev Next

Early onset or syndromic epilepsy

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 10:58 a.m. | Last Modified: 26 Sep 2024, 10:58 a.m.
Panel Version: 6.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 26 Sep 2024, 10:58 a.m.
Last Modified: 26 Sep 2024, 10:58 a.m.
Panel version: 6.6

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 31 Jan 2024, 2:59 p.m. | Last Modified: 31 Jan 2024, 2:59 p.m.
Panel Version: 4.157
Added new-gene-name tag, new approved HGNC gene symbol for COL4A3BP is CERT1
Created: 31 Jan 2024, 2:57 p.m. | Last Modified: 31 Jan 2024, 2:57 p.m.
Panel Version: 4.156
This gene is associated with a relevant phenotype in OMIM and in Gene2Phenotype (definitive disease confidence category for CERT1-related INTELLECTUAL DISABILITY)

At least 35 cases have been reported in literature with heterozygous variants. Seizures were observed in at least 19 individuals.
Sources: Literature
Created: 31 Jan 2024, 2:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder, autosomal dominant 34, OMIM:616351

Publications

Created: 31 Jan 2024, 2:57 p.m.

Panel version: 4.156

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 34, OMIM:616351
Tags
new-gene-name
OMIM
604677
Clinvar variants
Variants in COL4A3BP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_24_promote_green was removed from gene: COL4A3BP.

26 Sep 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to COL4A3BP. Source Expert Review Green was added to COL4A3BP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: col4a3bp has been classified as Amber List (Moderate Evidence).

31 Jan 2024, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

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

31 Jan 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: COL4A3BP was added gene: COL4A3BP was added to Early onset or syndromic epilepsy. Sources: Literature Q1_24_promote_green tags were added to gene: COL4A3BP. Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A3BP were set to 25533962; 33347465; 34688657; 36976648; 37892645 Phenotypes for gene: COL4A3BP were set to Intellectual developmental disorder, autosomal dominant 34, OMIM:616351 Review for gene: COL4A3BP was set to GREEN