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  3. SEC31A
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Microcephaly

Gene: SEC31A

Amber List (moderate evidence)
SEC31A (SEC31 homolog A, COPII coat complex component)
EnsemblGeneIds (GRCh38): ENSG00000138674
EnsemblGeneIds (GRCh37): ENSG00000138674
OMIM: 610257, Gene2Phenotype
SEC31A is in 4 panels

1 review

Tiong Tan (Victorian Clinical Genetics Services)

I don't know

Single family with two affected sibs with functional data (drosophila)
Sources: Literature
Created: 16 Dec 2019, 4:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 16 Dec 2019, 4:57 a.m.

Panel version: 0.43

Details

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

History Filter Activity

16 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: sec31a has been classified as Amber List (Moderate Evidence).

16 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: sec31a has been classified as Amber List (Moderate Evidence).

16 Dec 2019, Gel status: 1

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: SEC31A was added gene: SEC31A was added to Microcephaly_VCGS. Sources: Literature 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, OMIM #618651 Review for gene: SEC31A was set to AMBER