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  2. Early onset or syndromic epilepsy
  3. SLC4A10
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Early onset or syndromic epilepsy

Gene: SLC4A10

Green List (high evidence)
SLC4A10 (solute carrier family 4 member 10)
EnsemblGeneIds (GRCh38): ENSG00000144290
EnsemblGeneIds (GRCh37): ENSG00000144290
OMIM: 605556, Gene2Phenotype
SLC4A10 is in 5 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 5:59 p.m. | Last Modified: 24 Feb 2025, 5:59 p.m.
Panel Version: 7.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 24 Feb 2025, 5:59 p.m.
Last Modified: 24 Feb 2025, 5:59 p.m.
Panel version: 7.39

Arina Puzriakova (Genomics England Curator)

Comment on list classification: This gene is associated with a relevant phenotype in OMIM (MIM# 620746). Over 10 unrelated cases reported in literature with biallelic variants in this gene, presenting with a neurodevelopmental disorder characterised by hypotonia, delayed psychomotor development and intellectual impairment. Microcephaly (<−3 SDS) and epilepsy are also variably observed but there are sufficient to rate as green in the context of these features.

Overall sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 13 Nov 2024, 4:15 p.m. | Last Modified: 13 Nov 2024, 4:15 p.m.
Panel Version: 8.24
Created: 13 Nov 2024, 4:15 p.m.
Last Modified: 13 Nov 2024, 4:15 p.m.
Copied from panel: Intellectual disability v8.25

Cassandra Smith (Genomics England)

Green List (high evidence)

More than 10 families with biallelic variants reported in SLC4A10, causing a neurodevelopmental disorder including intellectual disability.
Sources: Other
Created: 5 Nov 2024, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 5 Nov 2024, 4:16 p.m.

Copied from panel: Intellectual disability v8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746
OMIM
605556
Clinvar variants
Variants in SLC4A10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2025, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: SLC4A10.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to SLC4A10. Source Expert Review Green was added to SLC4A10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

13 Nov 2024, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: SLC4A10 was added gene: SLC4A10 was added to Early onset or syndromic epilepsy. Sources: Expert Review Amber,Other Q3_24_promote_green tags were added to gene: SLC4A10. Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A10 were set to 37459438; 38054405; 31130284 Phenotypes for gene: SLC4A10 were set to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746