Ductal plate malformation
Gene: C5orf42EnsemblGeneIds (GRCh38): ENSG00000197603
EnsemblGeneIds (GRCh37): ENSG00000197603
OMIM: 614571, Gene2Phenotype
C5orf42 is in 20 panels
1 review
Ivone Leong (Genomics England Curator)
New gene name is CPLANE1Created: 6 Nov 2018, 11:27 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Orofaciodigital syndrome VI (277170)
- Joubert syndrome 17 (614615)
- Tags
- OMIM
- 614571
- Clinvar variants
- Variants in C5orf42
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Ophthalmological ciliopathies
- Renal ciliopathies
- Neurological ciliopathies
- Clefting
- Limb disorders
- Cystic kidney disease
- Retinal disorders
- Ocular coloboma
- Skeletal dysplasia
- Unexplained kidney failure in young people
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Structural eye disease
- Rare multisystem ciliopathy disorders
- DDG2P
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: C5orf42.
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: New gene name is CPLANE
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to C5orf42. Rating Changed from Green List (high evidence) to No List (delete)
Added Tag
Ivone Leong (Genomics England Curator)Tag new-gene-name tag was added to C5orf42.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: C5orf42 was added gene: C5orf42 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C5orf42 were set to Orofaciodigital syndrome VI (277170); Joubert syndrome 17 (614615)