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  3. C2CD3
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Ductal plate malformation

Gene: C2CD3

No list
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
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Orofaciodigital syndrome XIV (615948)
Tags
curated_removed
OMIM
615944
Clinvar variants
Variants in C2CD3
Penetrance
None
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: C2CD3.

30 Nov 2018, Gel status: 0

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Demoted from red to amber as i

12 Nov 2018, Gel status: 0

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Removed was added to C2CD3. Rating Changed from Amber List (moderate evidence) to No List (delete)

6 Nov 2018, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: C2CD3 was added gene: C2CD3 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C2CD3 were set to ?Orofaciodigital syndrome XIV (615948)