MACROH2A1

macroH2A.1 histone
OMIM: 610054, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber MACROH2A1 in Mendeliome


Version 2.516

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, MACROH2A1-related

Amber MACROH2A1 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 Amber
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, MACROH2A1-related