FGF14_TTC

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber FGF14_TTC STR in Hereditary ataxia with onset in adulthood


Level 2: Neurology
Version 8.23
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia 27B, late-onset, OMIM: 620174
Tags
  • watchlist
  • NGS Not Validated
Amber FGF14_TTC STR in Hereditary neuropathy or pain disorder


Level 2: Neurology
Version 7.36
Latest signed off version: v7.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia 27B, late-onset, OMIM: 620174
Tags
  • watchlist
  • NGS Not Validated