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  2. Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
  3. PDE4D
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Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis

Gene: PDE4D

Green List (high evidence)
PDE4D (phosphodiesterase 4D)
EnsemblGeneIds (GRCh38): ENSG00000113448
EnsemblGeneIds (GRCh37): ENSG00000113448
OMIM: 600129, Gene2Phenotype
PDE4D is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #614613) and the OMIM record was last accessed on 17 December 2025.
Created: 17 Dec 2025, 9:13 p.m. | Last Modified: 17 Dec 2025, 9:13 p.m.
Panel Version: 1.8
Created: 17 Dec 2025, 9:13 p.m.
Last Modified: 17 Dec 2025, 9:13 p.m.
Panel version: 1.8

Eleanor Williams (Genomics England Curator)

PDE4D has been added to the panel for the clinical indication 'R293 Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis' with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 14 Jan 2023, 6:42 p.m. | Last Modified: 14 Jan 2023, 9:28 p.m.
Panel Version: 0.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 14 Jan 2023, 6:42 p.m.
Last Modified: 14 Jan 2023, 9:28 p.m.
Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Acrodysostosis 2, with or without hormone resistance, OMIM:614613
  • acrodysostosis 2 with or without hormone resistance, MONDO:0013822
OMIM
600129
Clinvar variants
Variants in PDE4D
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: PDE4D were changed from to Acrodysostosis 2, with or without hormone resistance, OMIM:614613; acrodysostosis 2 with or without hormone resistance, MONDO:0013822

14 Jan 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: PDE4D was added gene: PDE4D was added to Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown