PPP2R5D

protein phosphatase 2 regulatory subunit B'delta
OMIM: 601646
PanelMode of inheritanceDetails
5 panels
R-numbers: R56
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, autosomal dominant 35 OMIM:616355, intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:0014602
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
INTELLECTUAL DISABILITY
R-numbers: R21, R412
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
INTELLECTUAL DISABILITY
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 3.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 35, OMIM:616355
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
INTELLECTUAL DISABILITY