MAOB

monoamine oxidase B
OMIM: 309860, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red MAOB in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.407

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cerebral palsy

Red MAOB in Mendeliome


Version 1.4216

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Cerebral palsy

Green ISCA-37468-Loss Region in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.638

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • ClinGen
  • ClinGen
  • Expert Review Green
Phenotypes
  • Chromosome Xp11.23 deletion syndrome
Tags
  • SV/CNV

Green ISCA-37468-Loss Region in Common deletion and duplication syndromes


Version 0.150

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Chromosome Xp11.23 deletion syndrome
Tags
  • SV/CNV