RSPH4A

radial spoke head 4 homolog A
OMIM: 612647, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green RSPH4A in Ciliary Dyskinesia Level 2: Respiratory disorders Version 1.40	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 11 (MIM#612649)
Red RSPH4A in Heterotaxy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.36	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 11 (MIM#612649)
Green RSPH4A in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 11 (MIM#612649)
Green RSPH4A in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 11, OMIM#612649
Red RSPH4A in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	1 review	Not set	Sources Emory Genetics Laboratory
Green RSPH4A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 11, 612649 (3)
Green RSPH4A 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 Ciliary dyskinesia, primary
Red RSPH4A in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Ciliary dyskinesia, primary 612649
Green RSPH4A in Prepair 1000+ Level 2: Screening Version 1.1566	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 11, 612649 (3)
Red RSPH4A in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Ciliary dyskinesia, primary, 11 (MIM#612649)