DNAH5

dynein axonemal heavy chain 5
OMIM: 603335, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green DNAH5 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.474	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644
Green DNAH5 in Ciliary Dyskinesia Level 2: Respiratory disorders Version 1.63	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)
Green DNAH5 in Heterotaxy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.44	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)
Green DNAH5 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)
Green DNAH5 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)
Red DNAH5 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	1 review	Not set	Sources Emory Genetics Laboratory
Green DNAH5 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
Green DNAH5 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Primary ciliary dyskinesia
Green DNAH5 in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644) Heterotaxy
Green DNAH5 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
Red DNAH5 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644
Green DNAH5 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus MIM#608644