PanelApp (test)
  1. Genes and Genomic Entities
  2. TAOK1:Ensemblv115

TAOK1:Ensemblv115

TAO kinase 1
OMIM: 610266, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green TAOK1 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575
  • Intellectual disability
  • macrocephaly

Green TAOK1 in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Developmental delay with or without intellectual impairment or behavioral abnormalities - MIM#619575