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  3. COL4A3BP
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Genetic 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 5 panels

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- current HGNC symbol: CERT1
- Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT
Sources: Literature
Created: 7 Sep 2023, 2:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder 34 (MIM#616351)

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Sep 2023, 2:50 a.m.

Panel version: 0.1911

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder 34 (MIM#616351)
OMIM
604677
Clinvar variants
Variants in COL4A3BP
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

7 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col4a3bp has been classified as Green List (High Evidence).

7 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col4a3bp has been classified as Green List (High Evidence).

7 Sep 2023, Gel status: 0

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

Ee Ming Wong (Victorian Clinical Genetics Services)

gene: COL4A3BP was added gene: COL4A3BP was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A3BP were set to PMID: 36976648 Phenotypes for gene: COL4A3BP were set to Intellectual developmental disorder 34 (MIM#616351) Mode of pathogenicity for gene: COL4A3BP was set to Other Review for gene: COL4A3BP was set to GREEN gene: COL4A3BP was marked as current diagnostic