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  2. Holoprosencephaly and septo-optic dysplasia
  3. PPP1R12A
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Holoprosencephaly and septo-optic dysplasia

Gene: PPP1R12A

Green List (high evidence)
PPP1R12A (protein phosphatase 1 regulatory subunit 12A)
EnsemblGeneIds (GRCh38): ENSG00000058272
EnsemblGeneIds (GRCh37): ENSG00000058272
OMIM: 602021, Gene2Phenotype
PPP1R12A is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

12 unrelated individuals now published.
Created: 17 Dec 2019, 5:25 a.m. | Last Modified: 12 Feb 2020, 1:43 a.m.
Panel Version: 0.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; holoprosencephaly; disorder of sex development

Publications

Created: 17 Dec 2019, 5:25 a.m.
Last Modified: 12 Feb 2020, 1:43 a.m.
Panel version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

2 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp1r12a has been classified as Green List (High Evidence).

2 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PPP1R12A were set to

2 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp1r12a has been classified as Green List (High Evidence).

17 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).

17 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PPP1R12A were changed from to Intellectual disability; holoprosencephaly; disorder of sex development

17 Dec 2019, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PPP1R12A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPP1R12A was added gene: PPP1R12A was added to Holoprosencephaly and septo-optic dysplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PPP1R12A was set to Unknown