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Intellectual disability

Gene: SLC5A7

Amber List (moderate evidence)

SLC5A7 (solute carrier family 5 member 7)
EnsemblGeneIds (GRCh38): ENSG00000115665
EnsemblGeneIds (GRCh37): ENSG00000115665
OMIM: 608761, Gene2Phenotype
SLC5A7 is in 10 panels

1 review

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Amber
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 20, presynaptic,CMS20, 617143
Tags
watchlist
OMIM
608761
Clinvar variants
Variants in SLC5A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

Tag watchlist tag was added to gene: SLC5A7.

25 Jul 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene SLC5A7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

25 Jul 2019, Gel status: 2

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

Catherine Snow (Genomics England)

gene: SLC5A7 was added gene: SLC5A7 was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: SLC5A7 was set to Publications for gene: SLC5A7 were set to 30914295; 27569547 Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic,CMS20, 617143