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Skeletal dysplasia v8.13 EVC2 Eleanor Williams Mode of inheritance for gene: EVC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v8.12 EVC2 Eleanor Williams Phenotypes for gene: EVC2 were changed from Ellis-van Creveld syndrome 225500; Weyers acrofacial dysostosis 193530 to Ellis-van Creveld syndrome, OMIM:225500; Weyers acrofacial dysostosis, OMIM:193530
Skeletal dysplasia v8.11 EVC2 Eleanor Williams Publications for gene: EVC2 were set to
Skeletal dysplasia v8.10 EVC2 Eleanor Williams Mode of inheritance for gene: EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v8.9 EVC2 Eleanor Williams Tag Q3_25_MOI tag was added to gene: EVC2.
Skeletal dysplasia v8.6 EVC2 Ida Ertmanska changed review comment from: Comment on list classification: 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.; to: 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.
Skeletal dysplasia v8.6 EVC2 Ida Ertmanska commented on gene: EVC2: Comment on list classification: 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.
Skeletal dysplasia v8.6 EVC2 Ida Ertmanska reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38531627, 23220543, 19810119, 16404586; Phenotypes: Weyers acrofacial dysostosis, OMIM:193530, acrofacial dysostosis, Weyers type, MONDO:0008673; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v1.153 EVC2 Eleanor Williams Added phenotypes Ellis-van Creveld syndrome 225500; Weyers acrofacial dysostosis 193530 for gene: EVC2
Skeletal dysplasia v1.153 EVC Eleanor Williams Added phenotypes ECV1; Ellis-van Creveld syndrome, 225500 for gene: EVC
Skeletal dysplasia v1.147 EVC2 Tracy Lester reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ellis-van Creveld syndrome 225500, Weyers acrofacial dysostosis 193530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 EVC Tracy Lester reviewed gene: EVC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ECV1, Ellis-van Creveld syndrome, 225500, ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.146 EVC2 Eleanor Williams reviewed gene: EVC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.146 EVC Eleanor Williams reviewed gene: EVC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.145 EVC2 Eleanor Williams Source NHS GMS was added to EVC2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Skeletal dysplasia v1.145 EVC Eleanor Williams Source NHS GMS was added to EVC.
Rating Changed from Green List (high evidence) to Green List (high evidence)