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  3. C2CD3
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Kidneyome_SuperPanel_VCGS

Gene: C2CD3

Red List (low evidence)
C2CD3 (C2 calcium dependent domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000168014
EnsemblGeneIds (GRCh37): ENSG00000168014
OMIM: 615944, Gene2Phenotype
C2CD3 is in 12 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • KidGen_CilioNephronop v38.1.0
  • Expert Review Red
Phenotypes
  • Orofaciodigital syndrome XIV, MIM# 615948
OMIM
615944
Clinvar variants
Variants in C2CD3
Penetrance
None
Panels with this gene

History Filter Activity

28 Jan 2020, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: C2CD3 was added gene: C2CD3 was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Red,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV, MIM# 615948