Hereditary neuropathy or pain disorder
Gene: SLC5A6
The rating of this gene has been updated togreenfollowing NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 10:16 a.m. | Last Modified: 1 Feb 2023, 10:16 a.m.
Panel Version: 2.18
Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least 6 variants have been reported in at least 4 unrelated cases. Supportive functional studies and targeted therapeutic interventionyielded clinical improvement in four of the five patients (PMID: 35013551).Created: 19 May 2022, 4:10 p.m. | Last Modified: 19 May 2022, 4:10 p.m.
Panel Version: 1.103
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 19 May 2022, 3:57 p.m. | Last Modified: 19 May 2022, 3:57 p.m.
Panel Version: 1.103
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
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 GMSCreated: 14 Jan 2022, 10:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
motor neuropathy
Publications
Tag Q2_21_NHS_review was removed from gene: SLC5A6. Tag Q2_22_rating was removed from gene: SLC5A6.
Source Expert Review Green was added to SLC5A6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_NHS_review tag was added to gene: SLC5A6. Tag Q2_22_rating tag was added to gene: SLC5A6.
Gene: slc5a6 has been classified as Amber List (Moderate Evidence).
Publications for gene: SLC5A6 were set to PMID: 35013551
Phenotypes for gene: SLC5A6 were changed from motor neuropathy to Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973
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