PPP2R5E

protein phosphatase 2 regulatory subunit B'epsilon
OMIM: 601647, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PPP2R5E in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Mendelian neurodevelopmental disorder MONDO:0100500

Red PPP2R5E in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Mendelian neurodevelopmental disorder MONDO:0100500