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Prepair 1000+

Gene: C2CD3

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported. Multi-system, congenital ciliopathy.
Created: 21 Nov 2024, 2:47 a.m. | Last Modified: 21 Nov 2024, 2:47 a.m.
Panel Version: 1.571

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

History Filter Activity

21 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c2cd3 has been classified as Green List (High Evidence).

21 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: C2CD3 were changed from Orofaciodigital syndrome XIV to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413

21 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: C2CD3 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C2CD3 was added gene: C2CD3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV