Joubert syndrome

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 22 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol is CPLANE1
Created: 21 Mar 2018, 12:30 p.m.

Penny Clouston (Oxford)

Green List (high evidence)

On current diagnostic panel; positive families within our patient cohort. Evidence from the literature.
Created: 15 Mar 2016, 2:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Joubert syndrome; Oral-facial-digital syndrome type VI


Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

17 Nov 2016, Gel status: 0

Approved Gene

Alice Gardham (Genomics England)

This proposed gene was validated and added to this panel

15 Mar 2016, Gel status: 0

Added New Source

Penny Clouston (Oxford)

C5orf42 was added to Joubert syndromepanel. Sources: Expert Review

15 Mar 2016, Gel status: 0


Penny Clouston (Oxford)

C5orf42 was created by PennyC