Genomics England
GMS Panels
Panels
Genes and Entities

PPP1R12A

protein phosphatase 1 regulatory subunit 12A
OMIM: 602021
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
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 4.22
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Genitourinary and/or/brain malformation syndrome, 618820
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
disorder of sex development, holoprosencephaly, Intellectual disability, Genitourinary and/or brain malformation syndrome, OMIM:618820
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
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
  • - Paediatric disorders
Signed-off version 8.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Genitourinary and/or/brain malformation syndrome, OMIM:618820