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  3. C5orf42
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Cystic kidney disease

Gene: C5orf42

Red List (low evidence)
C5orf42 (chromosome 5 open reading frame 42)
EnsemblGeneIds (GRCh38): ENSG00000197603
EnsemblGeneIds (GRCh37): ENSG00000197603
OMIM: 614571, Gene2Phenotype
C5orf42 is in 20 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol is CPLANE1
Created: 21 Mar 2018, 12:28 p.m.
Created: 21 Mar 2018, 12:28 p.m.

Panel version: 1.23

Ellen Thomas (Genomics England Curator)

Comment on list classification: Joubert gene - not including syndromic conditions in this panel.
Created: 10 May 2016, 10:09 a.m.
Created: 10 May 2016, 10:09 a.m.

Panel version: 0.18

Miranda Durkie (Genetics)

Green List (high evidence)

No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 10:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Jouberts type 17

Publications

Created: 22 Oct 2015, 10:49 a.m.

Panel version: 0

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

15 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

C5orf42 was added to Cystic kidney diseasepanel. Sources: Expert