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Intellectual disability

Gene: PPP1R12A

No list

PPP1R12A (protein phosphatase 1 regulatory subunit 12A)
EnsemblGeneIds (GRCh38): ENSG00000058272
EnsemblGeneIds (GRCh37): ENSG00000058272
OMIM: 602021, Gene2Phenotype
PPP1R12A is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

12 individuals reported.
Sources: Expert list
Created: 13 Feb 2020, 9:45 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; holoprosencephaly; disorder of sex development

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Intellectual disability
  • holoprosencephaly
  • disorder of sex development
OMIM
602021
Clinvar variants
Variants in PPP1R12A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: PPP1R12A was added gene: PPP1R12A was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP1R12A were set to 31883643 Phenotypes for gene: PPP1R12A were set to Intellectual disability; holoprosencephaly; disorder of sex development Review for gene: PPP1R12A was set to GREEN gene: PPP1R12A was marked as current diagnostic