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BabyScreen+ newborn screening

Gene: EVC

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Well established gene-disease association.

Congenital multi-system disorder.

No specific treatment.
Created: 21 Nov 2022, 3:03 a.m. | Last Modified: 21 Nov 2022, 3:03 a.m.
Panel Version: 0.963

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ellis-van Creveld syndrome, MIM# 225500

History Filter Activity

21 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: evc has been classified as Red List (Low Evidence).

21 Nov 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EVC were changed from Ellis-van Creveld syndrome to Ellis-van Creveld syndrome, MIM# 225500

21 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: evc has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EVC was added gene: EVC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome