THAP12

THAP domain containing 12
OMIM: 607374, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red THAP12 in Mendeliome


Version 2.516

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, THAP12-related

Red THAP12 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.27

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, THAP12-related

Red THAP12 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.38

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Other
    • Other
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, THAP12-related

    Red THAP12 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.125

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Other
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, THAP12-related