Limb disordersGene: PDE3A
Genomics England clinical team notes - Agree with green rating. Brachdactyly likely first symptom noted
Created: 9 Sep 2018, 5:51 p.m.
PMID: 25961942 different missense variants identified in 6 unrelated families.
Created: 9 Apr 2018, 3:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertension and brachydactyly syndrome 112410
Ellen McDonagh: PMID: 25961942 different misse
This gene has been classified as Green List (High Evidence).
PDE3A was added to Limb disorders panel. Sources: Other
PDE3A was created by Ellen McDonagh