YWHAZ

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta
OMIM: 601288, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber YWHAZ in Mendeliome


Version 1.4216

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, YWHAZ-related

Amber YWHAZ in Rasopathy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.113

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, YWHAZ-related

Amber YWHAZ in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.638

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, YWHAZ-related