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  2. Joubert syndrome and other neurological ciliopathies
  3. EVC
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Joubert syndrome and other neurological ciliopathies

Gene: EVC

Amber List (moderate evidence)
EVC (EvC ciliary complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000072840
EnsemblGeneIds (GRCh37): ENSG00000072840
OMIM: 604831, Gene2Phenotype
EVC is in 18 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Well established ciliopathy gene, primarily with skeletal manifestations and rare reports of cerebellar malformations (Dandy-Walker malformation)
Sources: Expert Review
Created: 18 May 2020, 2:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ellis-van Creveld syndrome (MIM#225500)

Publications

Created: 18 May 2020, 2:50 a.m.

Panel version: 0.62

History Filter Activity

18 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: evc has been classified as Amber List (Moderate Evidence).

18 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: evc has been classified as Amber List (Moderate Evidence).

18 May 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

gene: EVC was added gene: EVC was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EVC were set to 23220543 Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome (MIM#225500) Review for gene: EVC was set to AMBER