Ophthalmological ciliopathies

Gene: C5orf42

Green List (high evidence)

C5orf42 (chromosome 5 open reading frame 42)
EnsemblGeneIds (GRCh38): ENSG00000197603
EnsemblGeneIds (GRCh37): ENSG00000197603
OMIM: 614571, Gene2Phenotype
C5orf42 is in 22 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.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review and >3 unrelated cases in OMIM and different variants reported for Joubert syndrome 17 and Orofaciodigital syndrome VI.
Created: 27 Aug 2016, 9:59 a.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

18 Dec 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: C5orf42.

8 Jul 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: C5orf42 was added gene: C5orf42 was added to Ophthalmological ciliopathies. Sources: Other,Expert list,Expert Review Green Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C5orf42 were set to 22693042; 25920555; 22425360 Phenotypes for gene: C5orf42 were set to Joubert syndrome; Oral-facial-digital syndrome type VI; Joubert syndrome 17