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  3. SLC31A1
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Early onset or syndromic epilepsy

Gene: SLC31A1

Amber List (moderate evidence)
SLC31A1 (solute carrier family 31 member 1)
EnsemblGeneIds (GRCh38): ENSG00000136868
EnsemblGeneIds (GRCh37): ENSG00000136868
OMIM: 603085, Gene2Phenotype
SLC31A1 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: This gene should be rated AMBER as it has been associated with neurodegeneration involving seizures in two unrelated cases.

This gene has been associated with phenotype in Gene2Phenotype, but not in OMIM.
Created: 2 Mar 2023, 9:32 p.m. | Last Modified: 2 Mar 2023, 9:32 p.m.
Panel Version: 3.96
PMID:36562171 reported a newborn infant of consanguineous parents with a homozygous pathogenic variant p.Leu79Pro in CTR1. This infant was born with pulmonary hypoplasia. At two weeks of age, multifocal brain hemorrhages were diagnosed and the infant developed seizures. The infant died at one month of age.
Created: 2 Mar 2023, 9:28 p.m. | Last Modified: 2 Mar 2023, 9:28 p.m.
Panel Version: 3.94
This gene has been associated with seizures in an identical twin male infants identified with homozygous novel missense variant p.Arg95His in CTR1. The twins had hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency.
Sources: Literature
Created: 2 Mar 2023, 9:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder, MONDO:0700092; Epilepsy, MONDO:0005027

Publications

Created: 2 Mar 2023, 9:18 p.m.

Panel version: 3.94

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
  • Epilepsy, MONDO:0005027
OMIM
603085
Clinvar variants
Variants in SLC31A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: slc31a1 has been classified as Amber List (Moderate Evidence).

2 Mar 2023, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: SLC31A1 were set to 35913762

2 Mar 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SLC31A1 was added gene: SLC31A1 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC31A1 were set to 35913762 Phenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, MONDO:0700092; Epilepsy, MONDO:0005027 Review for gene: SLC31A1 was set to RED