Genomics England
GMS Panels
Panels
Genes and Entities

PPP1R12A

protein phosphatase 1 regulatory subunit 12A
OMIM: 602021
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PPP1R12A-related Holoprosencephaly Spectrum and Urogenital Malformations
Green
in Differences in sex development
R-numbers: R146
Signed-off version 4.5
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:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
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 malformation
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Genitourinary and/or/brain malformation syndrome, OMIM:618820