Joubert syndrome and other neurological ciliopathies
Gene: C5orf42EnsemblGeneIds (GRCh38): ENSG00000197603
EnsemblGeneIds (GRCh37): ENSG00000197603
OMIM: 614571, Gene2Phenotype
C5orf42 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease associations both with prominent neurological features. More than 10 unrelated families reported with each association.
New gene name is CPLANE1.Created: 17 Feb 2021, 10:42 a.m. | Last Modified: 26 Jun 2021, 7:42 a.m.
Panel Version: 1.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Joubert syndrome 17, MIM# 614615
- MONDO:0013824
- Orofaciodigital syndrome VI, MIM# 277170
- Tags
- OMIM
- 614571
- Clinvar variants
- Variants in C5orf42
- Penetrance
- None
- Publications
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Clefting disorders
- Prepair 1000+
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Mendeliome
- Prepair 500+
- Callosome
- Ataxia - paediatric
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag new gene name tag was added to gene: C5orf42.
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: C5orf42 were changed from Joubert syndrome 17, MIM# 614615 to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: C5orf42 were set to 22425360
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c5orf42 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: C5orf42 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: C5orf42 was added gene: C5orf42 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: C5orf42 was set to Unknown