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DDG2P

Gene: SLC32A1

Green List (high evidence)
SLC32A1 (solute carrier family 32 member 1)
EnsemblGeneIds (GRCh38): ENSG00000101438
EnsemblGeneIds (GRCh37): ENSG00000101438
OMIM: 616440, Gene2Phenotype
SLC32A1 is in 3 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Developmental and epileptic encephalopathy 114, OMIM:620774)
Created: 3 Apr 2024, 11:08 a.m. | Last Modified: 3 Apr 2024, 11:08 a.m.
Panel Version: 3.84
Created: 3 Apr 2024, 11:08 a.m.
Last Modified: 3 Apr 2024, 11:08 a.m.
Panel version: 3.84

Eleanor Williams (Genomics England Curator)

This gene currently has no disease phenotype in OMIM, so checked this is the correct gene by cross checking the Ensembl ID in Gene2Phenotype and in PanelApp - they are the same so adding the gene-checked tag https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=4915
Created: 16 Oct 2023, 7:23 p.m. | Last Modified: 16 Oct 2023, 7:23 p.m.
Panel Version: 3.73
Created: 16 Oct 2023, 7:23 p.m.
Last Modified: 16 Oct 2023, 7:23 p.m.
Panel version: 3.73

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SLC32A1-related developmental and epileptic encephalopathy are moderate, monoallelic_autosomal and undetermined (PMIDs: 34038384, 36073542). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03331.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease SLC32A1-associated developmental and epileptic encephalopathy is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 36073542;34038384).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
SLC32A1-related developmental and epileptic encephalopathy; MONDO:0958331; OMIM:620774.0; SLC32A1-associated developmental and epileptic encephalopathy

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 114, OMIM:620774
OMIM
616440
Clinvar variants
Variants in SLC32A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: SLC32A1 was changed from Other to None

3 Apr 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SLC32A1 were changed from SLC32A1-associated developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 114, OMIM:620774

3 Apr 2024, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked was removed from gene: SLC32A1.

16 Oct 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: SLC32A1.

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SLC32A1 was added gene: SLC32A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC32A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC32A1 were set to 34038384; 36073542 Phenotypes for gene: SLC32A1 were set to SLC32A1-associated developmental and epileptic encephalopathy Mode of pathogenicity for gene: SLC32A1 was set to Other