1. Genes and Genomic Entities
  2. C2CD3

C2CD3

C2 calcium dependent domain containing 3
OMIM: 615944, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Green C2CD3 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • OROFACIODIGITAL SYNDROME XIV
  • OFD14, #615948
No list C2CD3 in Limb disorders


Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

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 1.29

    		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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.56
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Expert list
    Phenotypes
    • Orofaciodigital syndrome XIV 615948
    Green C2CD3 in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    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 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.108
    Latest signed off version: v4.0 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    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 1.170

    		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 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.18
    Latest signed off version: v3.0 (22 Mar 2023)

    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 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.21
    Latest signed off version: v3.1 (22 Mar 2023)

    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


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    		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)
    Green C2CD3 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Orofaciodigital syndrome XIV, 615948