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Fetal anomalies

Gene: EVC2

Green List (high evidence)
EVC2 (EvC ciliary complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000173040
EnsemblGeneIds (GRCh37): ENSG00000173040
OMIM: 607261, Gene2Phenotype
EVC2 is in 14 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Phenotypes accessed in OMIM on 22nd September 2025
Created: 22 Sep 2025, 1:06 p.m. | Last Modified: 22 Sep 2025, 1:06 p.m.
Panel Version: 6.83
Created: 22 Sep 2025, 1:06 p.m.
Last Modified: 22 Sep 2025, 1:06 p.m.
Panel version: 6.83

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: There are at least five unrelated families reported in literature with Weyers acrofacial dysostosis (rare skeletal dysplasia) and heterozygous variants in exon 22 of EVC2. While biallelic variants in EVC2 are associated with Ellis-van Creveld syndrome, Weyers acrofacial dysostosis is dominantly inherited. MOI should be changed from BIALLELIC to BOTH monoallelic and biallelic in the next GMS panel update.
Created: 29 Aug 2025, 10:49 a.m. | Last Modified: 29 Aug 2025, 10:51 a.m.
Panel Version: 6.17
Biallelic variants in EVC2 are associated with Ellis-van Creveld syndrome, characterised by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth.

Monoallelic variants have been reported in at least 5 families with Weyers acrofacial dysostosis (PMID: 38531627; 19810119; 16404586). Affected individuals showed neonatal-onset postaxial polydactyly in 1-4 limbs, 2-3 toe syndactyly, dysplastic nails, and abnormal dental presentation. All reported variants are in the last exon (22) of EVC2: c.3793delC, p.(Leu1265fs); c.3797T>A, p.(Leu1266Ter); c.3797T>G, p.(Leu1266Ter); c.3751G>T, p.(Glu1251Ter).

PMID: 23220543 D’Asdia et al., 2013 - 2 families with Weyers acrofacial dysostosis. EVC and EVC2 genes were screened and heterozygous mutations in the last exon of EVC2 were identified. ABSTRACT ONLY ACCESSED.

There is good evidence of dominant segregation of disease with the variant in all the families. Thus, MOI should be changed from BIALLELIC to BOTH monoallelic and biallelic in the next GMS panel update.
This gene is associated with Autosomal Dominant Weyers acrofacial dysostosis, OMIM:193530 (accessed 26th Aug 2025).
Created: 29 Aug 2025, 10:48 a.m. | Last Modified: 29 Aug 2025, 10:48 a.m.
Panel Version: 6.17

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Weyers acrofacial dysostosis, OMIM:193530; acrofacial dysostosis, Weyers type, MONDO:0008673

Publications

Created: 29 Aug 2025, 10:48 a.m.
Last Modified: 29 Aug 2025, 10:51 a.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional evidence from PAGE study: Diagnostic Homozygous variant identified in EVC2 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).
Created: 18 Apr 2019, 3:51 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for ELLIS-VAN CREVELD SYNDROME and Confirmed for ACROFACIAL DYSOSTOSIS WEYERS TYPE.
Created: 11 Dec 2018, 9:04 a.m.

Publications

Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.183

History Filter Activity

23 Sep 2025, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_MOI tag was added to gene: EVC2.

22 Sep 2025, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: EVC2 were set to

22 Sep 2025, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: EVC2 were changed from ELLIS-VAN CREVELD SYNDROME; ACROFACIAL DYSOSTOSIS WEYERS TYPE to Ellis-van Creveld syndrome, OMIM:225500 Weyers acrofacial dysostosis, OMIM:193530

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes ACROFACIAL DYSOSTOSIS WEYERS TYPE for gene: EVC2

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: EVC2 was added gene: EVC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC2 were set to ELLIS-VAN CREVELD SYNDROME