PIH1D3

PIH1 domain containing 3
OMIM: 300933, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green PIH1D3 in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.56	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Literature Phenotypes X-linked primary ciliary dyskinesia X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects Tags new-gene-name
Green PIH1D3 in Laterality disorders and isomerism Level 2: Respiratory Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Ciliary dyskinesia, primary, 36, X-linked, 300991 Tags new-gene-name
Green PIH1D3 in Respiratory ciliopathies including non-CF bronchiectasis Level 2: Respiratory Version 4.55 Latest signed off version: v4.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes X-linked primary ciliary dyskinesia X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects Tags new-gene-name
Green PIH1D3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Ciliary dyskinesia, primary, 36, X-linked, OMIM:300991 Ciliary dyskinesia, primary, 36, X-linked, MONDO:0010517 Tags new-gene-name
Green PIH1D3 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green DD-Gene2Phenotype Phenotypes X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects Tags new-gene-name