Thoracic dystrophies
Gene: EVC2EnsemblGeneIds (GRCh38): ENSG00000173040
EnsemblGeneIds (GRCh37): ENSG00000173040
OMIM: 607261, Gene2Phenotype
EVC2 is in 14 panels
3 reviews
Melita Irving (Guy's and St Thomas' NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ellis-van Creveld syndrome
Hannah Mitchison (UCL and GOSH)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ellis-van Creveld syndrome
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Ellis-van Creveld syndrome
- OMIM
- 607261
- Clinvar variants
- Variants in EVC2
- Penetrance
- Complete
- Panels with this gene
-
- Osteogenesis imperfecta
- Skeletal ciliopathies
- Ductal plate malformation
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Neurological ciliopathies
- Gastrointestinal neuromuscular disorders
- Limb disorders
- Thoracic dystrophies
- Primary ciliary disorders
- Intellectual disability
- Fetal anomalies
- DDG2P
- Rare multisystem ciliopathy disorders
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.
Added New Source
Eik Haraldsdottir (Genomics England)EVC2 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)EVC2 was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Eik Haraldsdottir (Genomics England)EVC2 was added to Thoracic dystrophiespanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)EVC2 was added to Thoracic dystrophiespanel. Sources: UKGTN