PPP2R5C

protein phosphatase 2 regulatory subunit B'gamma
OMIM: 601645, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PPP2R5C in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Research
Phenotypes
  • Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092)
  • macrocephaly
  • intellectual disability

Green PPP2R5C in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Research
Phenotypes
  • Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092)
  • macrocephaly
  • intellectual disability

Green PPP2R5C in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Research
Phenotypes
  • Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092)
  • macrocephaly
  • intellectual disability

Amber PPP2R5C in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • macrocephaly
  • overgrowth