C2CD3

C2 calcium dependent domain containing 3
OMIM: 615944, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green C2CD3 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes OROFACIODIGITAL SYNDROME XIV OFD14, #615948
No list C2CD3 in Limb disorders Level 2: Musculoskeletal Version 7.20 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 C2CD3 in Ductal plate malformation Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Orofaciodigital syndrome XIV (615948) Tags curated_removed
Green C2CD3 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list UKGTN Phenotypes Orofaciodigital syndrome XIV 615948
Green C2CD3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Orofaciodigital syndrome XIV, OMIM:615948 Orofaciodigital syndrome type 14, MONDO:0014413
Green C2CD3 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes OROFACIODIGITAL SYNDROME XIV 615948
Green C2CD3 in Clefting Level 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes OROFACIODIGITAL SYNDROME XIV OFD14
Green C2CD3 in Intellectual disability Level 2: Developmental disorders Version 9.285 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 Green Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome XIV, 615948 Joubert-related disorder
Green C2CD3 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 Radboud University Medical Center, Nijmegen Expert list Phenotypes ?Orofaciodigital syndrome XIV, 615948 short-rib polydactyly syndromes (SRPS MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD MIM208500) Orofaciodigital syndromes (OFDS, MIM 311200)
Green C2CD3 in Neurological ciliopathies Level 2: Neurology Version 6.13 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes short-rib polydactyly syndromes (SRPS MIM208500) MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD ?Orofaciodigital syndrome XIV, 615948 Orofaciodigital syndromes (OFDS, MIM 311200)
Green C2CD3 in Skeletal ciliopathies Level 2: Musculoskeletal Version 6.5 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Radboud University Medical Center, Nijmegen Phenotypes short-rib polydactyly syndromes (SRPS MIM208500) MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD ?Orofaciodigital syndrome XIV, 615948 Orofaciodigital syndromes (OFDS, MIM 311200)
Red C2CD3 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Red London North GLH Phenotypes MIM208500) MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD short-rib polydactyly syndromes (SRPS ?Orofaciodigital syndrome XIV, 615948 Orofaciodigital syndromes (OFDS, MIM 311200)