1. Genes and Genomic Entities
  2. THAP11

THAP11

THAP domain containing 11
OMIM: 609119, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red THAP11_CAG STR in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.32
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 51, OMIM:620947
    Tags
    • STR
    • NGS Not Validated
    Red THAP11_CAG STR in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 51, OMIM:620947
    Tags
    • STR
    • NGS Not Validated