Genomics England
GMS Panels
Panels
Genes and Entities

PDE4D

phosphodiesterase 4D
OMIM: 600129
PanelMode of inheritanceDetails
5 panels
Green
in Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
R-numbers: R293
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACRODYSOSTOSIS 101800
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACRODYSOSTOSIS
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Acrodysostosis 2, with or without hormone resistance, 614613, Acrodysostosis Orphanet:950
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acrodysostosis 2, with or without hormone resistance 614613, Acrodysostosis 2, with or without hormone resistance 614613