PIH1D3

PIH1 domain containing 3
OMIM: 300933, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green PIH1D3 in Ciliary Dyskinesia Level 2: Respiratory disorders Version 1.39	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 36, X-linked (MIM#300991)
Green PIH1D3 in Heterotaxy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.32	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 36, X-linked (MIM#300991)
Green PIH1D3 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Ciliary dyskinesia, primary, 36, X-linked, MIM# 300991
Green PIH1D3 in Mendeliome Version 1.1891	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 36, X-linked (MIM#300991)
Green PIH1D3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive Tags new gene name
Green PIH1D3 in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 36, X-linked, OMIM:300991 Ciliary dyskinesia, primary, 36, X-linked, MONDO:0010517
Green PIH1D3 in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive