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Intellectual disability

Gene: SEC31A

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SEC31A (SEC31 homolog A, COPII coat complex component)
EnsemblGeneIds (GRCh38): ENSG00000138674
EnsemblGeneIds (GRCh37): ENSG00000138674
OMIM: 610257, Gene2Phenotype
SEC31A is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

Single family with two affected sibs with functional data (drosophila), one to watch.
Sources: Expert list
Created: 16 Feb 2020, 7:03 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
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 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SEC31A was added gene: SEC31A was added to Intellectual disability. Sources: Expert list 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