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Early onset or syndromic epilepsy

Gene: SEC31A

Red List (low evidence)

SEC31A (SEC31 homolog A, COPII coat complex component)
EnsemblGeneIds (GRCh38): ENSG00000138674
EnsemblGeneIds (GRCh37): ENSG00000138674
OMIM: 610257, Gene2Phenotype
SEC31A is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

I don't know

Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. One homozygous terminating variant reported in sibs of consanguineous Bedouin parents, together with a Drosophila model in which loss of sec31a was embryonically lethal and associated with defects in eye and brain development, consistent with abnormal neurodevelopment.
Sources: Literature
Created: 13 Jul 2020, 5:59 p.m. | Last Modified: 27 Jul 2020, 10:07 a.m.
Panel Version: 2.128

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 618651

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 618651
Tags
watchlist
OMIM
610257
Clinvar variants
Variants in SEC31A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jul 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: SEC31A was added gene: SEC31A was added to Genetic epilepsy syndromes. Sources: Literature watchlist tags were added to gene: SEC31A. Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC31A were set to 30464055 Phenotypes for gene: SEC31A were set to Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 618651 Review for gene: SEC31A was set to AMBER