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  3. C5orf42
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Structural eye 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

4 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

Lopez: one case with microphthalmia among 11 families, compound het for missense and frameshift, parents not available
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Lopez: one case with microphthalmia among 11 families, compound het for missense and frameshift, parents not available
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 17; 614615

Publications

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

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.91

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for C5orf42 is CPLANE1
Created: 9 May 2019, 3:25 p.m.
Created: 9 May 2019, 3:25 p.m.

Panel version: 0.75

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Phenotypes
Oriofaciodigital Syndrome VI, OFD6

Created: 23 Apr 2019, 2:12 p.m.

Panel version: 0.60

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Lopez: one case with microphthalmia among 11 families, compound het for missense and frameshift, parents not available
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 17, 614615

Publications

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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

History Filter Activity

9 May 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

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

23 Apr 2019, Gel status: 1

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source London North GLH was added to C5orf42. Added phenotypes Oriofaciodigital Syndrome VI, OFD6, 277170 for gene: C5orf42

17 Apr 2019, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to C5orf42. Added phenotypes Joubert syndrome 17, 614615 for gene: C5orf42 Publications for gene C5orf42 were changed from 22425360; 22693042; 25920555 to 24178751

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: C5orf42 was added gene: C5orf42 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C5orf42 were set to 22425360; 22693042; 25920555 Phenotypes for gene: C5orf42 were set to Oral-facial-digital syndrome type VI; Joubert syndrome