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Research panel - Severe Paediatric Disorders

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 20 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CPLANE1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Joubert syndrome 17, 614615 (3) | Orofaciodigital syndrome VI, 277170 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.
Panel Version: 0.12
Added new-gene-name tag, new approved HGNC gene symbol for C5orf42 is CPLANE1 (current gene symbol submitted by Next Generation Children Project)
Created: 17 Feb 2020, 10:11 a.m. | Last Modified: 17 Feb 2020, 10:11 a.m.
Panel Version: 0.7
Created: 17 Feb 2020, 10:11 a.m.
Last Modified: 17 Feb 2020, 10:11 a.m.
Panel version: 0.12

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene C5orf42 was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene C5orf42 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Joubert syndrome 17, 614615; Orofaciodigital syndrome VI, 277170 for gene: C5orf42

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Joubert syndrome 17, 614615; Orofaciodigital syndrome VI, 277170 for gene: C5orf42

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Joubert syndrome 17, 614615; Orofaciodigital syndrome VI, 277170 for gene: C5orf42

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Orofaciodigital syndrome VI, 277170; Joubert syndrome 17, 614615 for gene: C5orf42

14 Feb 2020, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

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

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to C5orf42.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to C5orf42. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: C5orf42 was added gene: C5orf42 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: C5orf42 was set to