PPP1R12A

protein phosphatase 1 regulatory subunit 12A
OMIM: 602021, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PPP1R12A in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.8

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual disability
  • holoprosencephaly
  • disorder of sex development

Green PPP1R12A in Holoprosencephaly and septo-optic dysplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.17

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual disability
  • holoprosencephaly
  • disorder of sex development

Green PPP1R12A in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual disability
  • holoprosencephaly
  • disorder of sex development

Green PPP1R12A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Research
Phenotypes
  • Intellectual disability
  • holoprosencephaly
  • disorder of sex development

Green PPP1R12A in Fetal anomalies


Version 1.314

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual disability
  • holoprosencephaly
  • disorder of sex development