1. Panels
  2. Primary pigmented nodular adrenocortical disease
  3. PDE8B
STRs in panel
Prev Next
Regions in panel
Prev Next

Primary pigmented nodular adrenocortical disease

Gene: PDE8B

Green List (high evidence)
PDE8B (phosphodiesterase 8B)
EnsemblGeneIds (GRCh38): ENSG00000113231
EnsemblGeneIds (GRCh37): ENSG00000113231
OMIM: 603390, Gene2Phenotype
PDE8B is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 5 Feb 2019, 2:48 p.m.
Comment on list classification: Promoted from red to green as per Martina Owen's (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) initial gene rating.
Created: 17 Jan 2019, 10:27 a.m.
Created: 17 Jan 2019, 10:27 a.m.

Panel version: 0.6

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pigmented nodular adrenocortical disease, primary, 3, 614190

Publications

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

Created: 16 Jan 2019, 10:47 a.m.

Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pigmented nodular adrenocortical disease, primary, 3, OMIM:614190
OMIM
603390
Clinvar variants
Variants in PDE8B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PDE8B were changed from Pigmented nodular adrenocortical disease, primary, 3, 614190 to Pigmented nodular adrenocortical disease, primary, 3, OMIM:614190

17 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pde8b has been classified as Green List (High Evidence).

16 Jan 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: PDE8B was added gene: PDE8B was added to Primary pigmented nodular adrenocortical disease. Sources: NHS GMS Mode of inheritance for gene: PDE8B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDE8B were set to 18272904 Phenotypes for gene: PDE8B were set to Pigmented nodular adrenocortical disease, primary, 3, 614190