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BabyScreen+ newborn screening

Gene: CCDC50

Red List (low evidence)

CCDC50 (coiled-coil domain containing 50)
EnsemblGeneIds (GRCh38): ENSG00000152492
EnsemblGeneIds (GRCh37): ENSG00000152492
OMIM: 611051, Gene2Phenotype
CCDC50 is in 5 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Deafness, autosomal dominant 44 , MIM# 607453
OMIM
611051
Clinvar variants
Variants in CCDC50
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2024, Gel status: 1

Set Phenotypes, Set publications

Tommy Li (Murdoch Children's Research Institute)

Added phenotypes Deafness, autosomal dominant 44 , MIM# 607453 for gene: CCDC50 Publications for gene CCDC50 were updated from 27911912; 24875298; 17503326 to 17503326; 27911912; 24875298

18 Sep 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CCDC50 was added gene: CCDC50 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CCDC50 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCDC50 were set to 27911912; 24875298; 17503326 Phenotypes for gene: CCDC50 were set to Deafness, autosomal dominant 44 , MIM# 607453