CCDC50

coiled-coil domain containing 50
OMIM: 611051, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber CCDC50 in Mendeliome Version 1.2302	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 44 MIM#607453
Amber CCDC50 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.210	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 44, MIM# 607453 Childhood onset deafness, progressive
Amber CCDC50 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.67	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal dominant 44, MIM# 607453 Childhood onset deafness, progressive
Red CCDC50 in Additional findings_Paediatric Level 2: Screening Version 0.278	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Deafness, autosomal dominant 44 , MIM# 607453
Red CCDC50 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Deafness, autosomal dominant 44 , MIM# 607453