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  2. Thoracic dystrophies
  3. EVC
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Thoracic dystrophies

Gene: EVC

Green List (high evidence)
EVC (EvC ciliary complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000072840
EnsemblGeneIds (GRCh37): ENSG00000072840
OMIM: 604831, Gene2Phenotype
EVC is in 14 panels

3 reviews

Melita Irving (Guy's and St Thomas' NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ellis-van Creveld Syndrome; Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530

Created: 26 May 2017, 8:01 a.m.

Panel version: 0.35

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ellis-van Creveld Syndrome; Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530

Created: 25 May 2017, 9:22 a.m.

Panel version: 0.5

Helen Savage (Congenica Ltd)

Green List (high evidence)

Phenotypes
Ellis-van Creveld syndrome

Publications

Created: 23 Feb 2016, 4:38 p.m.

Panel version: 0.0

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
  • Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530
OMIM
604831
Clinvar variants
Variants in EVC
Penetrance
Complete
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

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.

6 May 2015, Gel status: 4

Added New Source

Eik Haraldsdottir (Genomics England)

EVC was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory

6 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

EVC was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

EVC was added to Thoracic dystrophiespanel. Sources: Illumina TruGenome Clinical Sequencing Services

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

EVC was added to Thoracic dystrophiespanel. Sources: UKGTN