Genomics England
GMS Panels
Panels
Genes and Entities

PIH1D3

PIH1 domain containing 3
OMIM: 300933
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Ciliary dyskinesia, primary, 36, X-linked, OMIM:300991, Ciliary dyskinesia, primary, 36, X-linked, MONDO:0010517
Green
in Laterality disorders and isomerism
R-numbers: R139
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Ciliary dyskinesia, primary, 36, X-linked, 300991
Green
in Respiratory ciliopathies including non-CF bronchiectasis
R-numbers: R189
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-linked primary ciliary dyskinesia, X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects