Intellectual disability
Gene: SLC5A7

SLC5A7 (solute carrier family 5 member 7)
EnsemblGeneIds (GRCh38): ENSG00000115665
EnsemblGeneIds (GRCh37): ENSG00000115665
OMIM: 608761, Gene2Phenotype
SLC5A7 is in 8 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Some patients with SLC5A7-related CMS can exhibit developmental delay and cognitive impairment (PMID: 27569547; 39135055; 36840359; 36611016; 33250374). Although this feature is not universal, there are sufficient unrelated cases where cognitive deficit is an defining feature of the early phenotype, to warrant inclusion of SLC5A7 on this panel.
Created: 12 Feb 2025, 3:13 p.m. | Last Modified: 12 Feb 2025, 3:13 p.m.

Panel Version: 8.83

Comment on publications: PMID:39135055 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques
Created: 12 Feb 2025, 3 p.m. | Last Modified: 12 Feb 2025, 3 p.m.

Panel Version: 8.81

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143

Publications

Created: 12 Feb 2025, 3 p.m.
Last Modified: 12 Feb 2025, 3 p.m.
Panel version: 8.83

Catherine Snow (Genomics England)

Comment on list classification: Gene identified in literature PMID:30914295 as missing in PanelApp compared to other curated gene list for ID genes.

OMIM reports two phenotypes for SLC5A7 - Neuronopathy, distal hereditary motor, type VIIA 158580,AD, not phenotypically relevant and Myasthenic syndrome, congenital, 20, presynaptic, 617143 ,AR, which reports the phenotype of Cognitive impairment (in some patients)

Bauché et al (PMID: 27569547) identified six unrelated families who had all been diagnosed with congenital myasthenic syndromes (CMSs). Cognitive deficit was reported in three families although was noted as mild in 2 in the supplementary material.

Although 3 cases with 3 different variants have been identified, due to the phenotype not being fully representative in the syndrome and limited information about the classification of ID. SLC5A7 will be rated as Amber and added to the watchlist.
Created: 30 May 2019, 4:31 p.m.

Created: 30 May 2019, 4:31 p.m.

Panel version: Imported from Intellectual disability update May 2019 panel version 0.135

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Literature
Expert Review Amber
Literature

Phenotypes

Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143

Tags

Q1_25_ promote_green

OMIM

608761

Clinvar variants

Variants in SLC5A7

Penetrance

None

Publications

Panels with this gene