Thoracic dystrophies
Gene: C5orf42EnsemblGeneIds (GRCh38): ENSG00000197603
EnsemblGeneIds (GRCh37): ENSG00000197603
OMIM: 614571, Gene2Phenotype
C5orf42 is in 20 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol is CPLANE1Created: 21 Mar 2018, 12:29 p.m.
Melita Irving (Guy's and St Thomas' NHS Trust)
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Red as no evidence for a cause of a thoracic dystrophy phenotype.Created: 30 May 2017, 9:46 a.m.
Comment on list classification: There is sufficient evidence for causation, however the phenotype is not appropriate for thoracic dystrophies, unlike clefting. This is the reason for the discrepant reviews.Created: 30 May 2017, 9:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OROFACIODIGITAL SYNDROME VI; OFD6
Hannah Mitchison (UCL and GOSH)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- OROFACIODIGITAL SYNDROME VI
- OFD6
- Tags
- OMIM
- 614571
- Clinvar variants
- Variants in C5orf42
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Ocular coloboma
- Intellectual disability
- Clefting
- Retinal disorders
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for C5orf42 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for C5orf42 were set to OROFACIODIGITAL SYNDROME VI; OFD6
Added New Source
Eik Haraldsdottir (Genomics England)C5orf42 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory