EVC2

EvC ciliary complex subunit 2
OMIM: 607261, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Red EVC2 in Gastrointestinal neuromuscular disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.30	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Ellis-van Creveld syndrome, with chronic intestinal pseudo-obstruction 225500
Green EVC2 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Ellis-van Creveld syndrome
No list EVC2 in Limb disorders Level 2: Musculoskeletal Version 7.22 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list EVC2 in Ductal plate malformation Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Emory Genetics Laboratory Expert list UKGTN Phenotypes Ellis-van Creveld syndrome (225500) Tags curated_removed
Red EVC2 in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.56	review	Not set	Sources Emory Genetics Laboratory Phenotypes ciliopathies
Green EVC2 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.38 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Ellis-van Creveld syndrome, OMIM:225500 Weyers acrofacial dysostosis, OMIM:193530
Green EVC2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.169 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Ellis-van Creveld syndrome, OMIM:225500 Weyers acrofacial dysostosis, OMIM:193530
No list EVC2 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.5 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Disproportionate Short Stature Tags curated_removed
Green EVC2 in DDG2P Version 6.438 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530 ELLIS-VAN CREVELD SYNDROME 225500
Red EVC2 in Intellectual disability Level 2: Developmental disorders Version 9.330 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ellis-van Creveld syndrome, 225500
Green EVC2 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list Phenotypes Ellis-van Creveld syndrome, 225500 Weyers acrofacial dysostosis, 193530
Green EVC2 in Neurological ciliopathies Level 2: Neurology Version 6.15 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset Paediatric disorders Rare multisystem ciliopathy Super panel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Ellis-van Creveld syndrome, OMIM:225500 Weyers acrofacial dysostosis, OMIM:193530
Green EVC2 in Skeletal ciliopathies Level 2: Musculoskeletal Version 6.7 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Illumina TruGenome Clinical Sequencing Services Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory Phenotypes Ellis-van Creveld syndrome, OMIM:225500 Weyers acrofacial dysostosis, OMIM:193530
Red EVC2 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Red London North GLH Phenotypes Ellis-van Creveld syndrome, 225500 Weyers acrofacial dysostosis, 193530