Genomics England
GMS Panels
Panels
Genes and Entities

PPP1R12A

protein phosphatase 1 regulatory subunit 12A
OMIM: 602021
PanelMode of inheritanceDetails
3 panels
Green
in Disorders of sex development
R-numbers: R146
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Genitourinary and/or/brain malformation syndrome, 618820
Green
in Intellectual disability
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
Genitourinary and/or/brain malformation syndrome, 618820
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Genitourinary and/or/brain malformation syndrome, OMIM:618820