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  3. SLC4A10
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Intellectual disability

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, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.
Panel Version: 8.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 24 Feb 2025, 6:15 p.m.
Last Modified: 24 Feb 2025, 6:15 p.m.
Panel version: 8.97

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.
Panel version: 8.24

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.

Panel version: 8.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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

25 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

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: SLC4A10.

13 Nov 2024, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SLC4A10 were set to 37459438; 38054405

13 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: slc4a10 has been classified as Amber List (Moderate Evidence).

13 Nov 2024, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SLC4A10 were changed from to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746

5 Nov 2024, Gel status: 0

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

Cassandra Smith (Genomics England)

gene: SLC4A10 was added gene: SLC4A10 was added to Intellectual disability. Sources: Other Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A10 were set to 37459438; 38054405 Review for gene: SLC4A10 was set to GREEN