Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: PDE4D

Green List (high evidence)

PDE4D (phosphodiesterase 4D)
EnsemblGeneIds (GRCh38): ENSG00000113448
EnsemblGeneIds (GRCh37): ENSG00000113448
OMIM: 600129, Gene2Phenotype
PDE4D is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 families reported, intellectual disability is a feature.
Created: 24 Apr 2022, 1:49 a.m. | Last Modified: 24 Apr 2022, 1:49 a.m.
Panel Version: 0.4691

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Acrodysostosis 2, with or without hormone resistance, MIM# 614613

Publications

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

ID/dev delay reported
Created: 20 Apr 2022, 3:46 a.m. | Last Modified: 20 Apr 2022, 3:46 a.m.
Panel Version: 0.4684

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Acrodysostosis 2, with or without hormone resistance - MIM#614613

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Acrodysostosis 2, with or without hormone resistance, MIM# 614613
OMIM
600129
Clinvar variants
Variants in PDE4D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pde4d has been classified as Green List (High Evidence).

24 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDE4D were changed from to Acrodysostosis 2, with or without hormone resistance, MIM# 614613

24 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDE4D were set to

24 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PDE4D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDE4D was added gene: PDE4D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDE4D was set to Unknown