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Hereditary neuropathy NOT PMP22 copy number

Gene: SLC5A6

No list

SLC5A6 (solute carrier family 5 member 6)
EnsemblGeneIds (GRCh38): ENSG00000138074
EnsemblGeneIds (GRCh37): ENSG00000138074
OMIM: 604024, Gene2Phenotype
SLC5A6 is in 4 panels

1 review

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Five individuals reported including three siblings with identical genotypes. Targeted therapy with biotin (therapeutic in other manifestations of this gene and in other biotin transporter deficiencies) improved phenotype in patients.
Sources: NHS GMS
Created: 14 Jan 2022, 10:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
motor neuropathy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • motor neuropathy
OMIM
604024
Clinvar variants
Variants in SLC5A6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Jan 2022, Gel status: 0

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

Ian Berry (Leeds Genetics Laboratory)

gene: SLC5A6 was added gene: SLC5A6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A6 were set to PMID: 35013551 Phenotypes for gene: SLC5A6 were set to motor neuropathy Penetrance for gene: SLC5A6 were set to Complete Review for gene: SLC5A6 was set to GREEN