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| Hereditary neuropathy or pain disorder v2.18 | SLC5A6 |
Mafalda Gomes Tag Q2_21_NHS_review was removed from gene: SLC5A6. Tag Q2_22_rating was removed from gene: SLC5A6. |
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| Hereditary neuropathy or pain disorder v2.18 | SLC5A6 | Eleanor Williams reviewed gene: SLC5A6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v2.17 | SLC5A6 |
Mafalda Gomes Source Expert Review Green was added to SLC5A6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v1.103 | SLC5A6 | Sarah Leigh edited their review of gene: SLC5A6: Added comment: 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).; Changed rating: GREEN; Changed publications to: 35013551; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.103 | SLC5A6 |
Sarah Leigh Tag Q2_21_NHS_review tag was added to gene: SLC5A6. Tag Q2_22_rating tag was added to gene: SLC5A6. |
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| Hereditary neuropathy or pain disorder v1.103 | SLC5A6 | Sarah Leigh Classified gene: SLC5A6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.103 | SLC5A6 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.103 | SLC5A6 | Sarah Leigh Gene: slc5a6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.102 | SLC5A6 | Sarah Leigh Publications for gene: SLC5A6 were set to PMID: 35013551 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.93 | SLC5A6 | Arina Puzriakova Phenotypes for gene: SLC5A6 were changed from motor neuropathy to Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.80 | SLC5A6 |
Ian Berry 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 Added comment: 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 |
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