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Fetal anomalies

Gene: PDE4D

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

IUGR reported.
Created: 13 Jan 2022, 7:21 a.m. | Last Modified: 13 Jan 2022, 7:21 a.m.
Panel Version: 0.2071

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Details

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

History Filter Activity

13 Jan 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).

13 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jan 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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDE4D was added gene: PDE4D was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PDE4D were set to ACRODYSOSTOSIS