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Mendeliome

Gene: PDE11A

Red List (low evidence)

PDE11A (phosphodiesterase 11A)
EnsemblGeneIds (GRCh38): ENSG00000128655
EnsemblGeneIds (GRCh37): ENSG00000128655
OMIM: 604961, Gene2Phenotype
PDE11A is in 4 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

Monogenic association with pigmented nodular adrenocortical disease postulated but identified variants in PMID 16767104 have a high prevalence in healthy population databases.
Created: 20 Apr 2022, 3:40 a.m. | Last Modified: 20 Apr 2022, 3:40 a.m.
Panel Version: 0.13100

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pigmented nodular adrenocortical disease, primary, 2 - MIM#610475

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Pigmented nodular adrenocortical disease, primary, 2 - MIM#610475
Tags
disputed
OMIM
604961
Clinvar variants
Variants in PDE11A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pde11a has been classified as Red List (Low Evidence).

24 Apr 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDE11A were changed from to Pigmented nodular adrenocortical disease, primary, 2 - MIM#610475

24 Apr 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDE11A were set to

24 Apr 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PDE11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Apr 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pde11a has been classified as Red List (Low Evidence).

24 Apr 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: PDE11A.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDE11A was added gene: PDE11A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PDE11A was set to Unknown