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  3. C2CD3
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Thoracic dystrophies

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 12 panels

3 reviews

Melita Irving (Guy's and St Thomas' NHS Trust)

Green List (high evidence)

Phenotypes
JBTS/OFD

Created: 26 May 2017, 8:01 a.m.

Panel version: 0.35

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Expert review green. In addition to two reported cases there is supportive animal data. Considered diagnostic grade.
Created: 25 May 2017, 12:03 p.m.
Only two cases reported but functional work in mice consistent with ciliopathy phenotype with loss of function
Created: 25 May 2017, 12:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OROFACIODIGITAL SYNDROME XIV; OFD14, #615948

Created: 25 May 2017, 12:01 p.m.

Panel version: 0.14

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

Phenotypes
JBTS/OFD

Created: 25 May 2017, 9:23 a.m.

Panel version: 0.5

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for C2CD3 were set to OROFACIODIGITAL SYNDROME XIV; OFD14, #615948

25 May 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for C2CD3 was changed to BIALLELIC, autosomal or pseudoautosomal

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

25 May 2017, Gel status: 0

Added New Source

Hannah Mitchison (UCL and GOSH)

C2CD3 was added to Thoracic dystrophiespanel. Sources: Expert Review

25 May 2017, Gel status: 0

Created

Hannah Mitchison (UCL and GOSH)

C2CD3 was created by hmitchis