CCDC78

coiled-coil domain containing 78
OMIM: 614666, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber CCDC78 in Mendeliome Version 1.2512	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Centronuclear myopathy 4, MIM#614807
Amber CCDC78 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.85 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Centronuclear Myopathy (MIM#614807 MONDO: 0018947)
Amber CCDC78 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.118	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes Centronuclear myopathy 4, MIM#614807
Red CCDC78 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Congenital myopathy with prominent internal nuclei and atypical cores
Red CCDC78 in Fetal anomalies Version 1.321	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Centronuclear myopathy 4, MIM#614807
Red CCDC78 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.117	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital myopathy with prominent internal nuclei and atypical cores