Skeletal Dysplasia_Fetal
Gene: C2CD3

C2CD3 (C2 calcium dependent domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000168014
EnsemblGeneIds (GRCh37): ENSG00000168014
OMIM: 615944, Gene2Phenotype
C2CD3 is in 14 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported, skeletal features are prominent.
Created: 23 Jun 2021, 7:24 a.m. | Last Modified: 23 Jun 2021, 7:24 a.m.

Panel Version: 0.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413

Publications

Created: 23 Jun 2021, 7:24 a.m.
Last Modified: 23 Jun 2021, 7:24 a.m.
Panel version: Imported from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy panel version 0.65

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Molar tooth sign (MTS) a listed phenotype in OMIM

PMID: 24997988 - 1 patient with a homozygous PTC. MRI showed MTS

PMID: 30097616 -
1 chet (two splice) patient with MTS, polydactyly. Sibling also had polydactyly, mild cerebellar hypoplasia and grey matter heterotopia.
1 chet (two missense) patient with MTS, was noted to have a diagnosis of Joubert syndrome
Summary Table 3 reviews previous reports, and notes 6/12 cases also had MTS.
Sources: Expert list
Created: 13 May 2020, 12:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofaciodigital syndrome XIV 615948

Publications

PMID: 24997988

Created: 13 May 2020, 12:46 a.m.

Panel version: Imported from Fetal anomalies panel version Imported from Joubert syndrome and other neurological ciliopathies panel version 0.48

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Renal phenotype not commonly seen in this ciliopathy, so not a renal ciliopathy
Created: 3 Jan 2020, 3:41 a.m. | Last Modified: 3 Jan 2020, 3:42 a.m.

Panel Version: 0.32

Created: 3 Jan 2020, 3:41 a.m.
Last Modified: 3 Jan 2020, 3:42 a.m.
Panel version: Imported from Fetal anomalies panel version Imported from Renal Ciliopathies and Nephronophthisis panel version 0.32

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Phenotypes

Orofaciodigital syndrome XIV, MIM# 615948
MONDO:0014413

OMIM

615944

Clinvar variants

Variants in C2CD3

Penetrance

None

Publications

Panels with this gene