CC2D2A

coiled-coil and C2 domain containing 2A
OMIM: 612013, Gene2Phenotype

30 panels

Panel Reviews Mode of inheritance Details
30 panels

Red CC2D2A in Familial Neural Tube Defects


Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel Syndrome

Red CC2D2A in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.39

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green CC2D2A in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.20

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • COACH syndrome 216360
  • Meckel syndrome 6 612284
  • Joubert syndrome 9 612285

Red CC2D2A in COVID-19 research


Level 2: Viral research
Version 1.79

review Not set
Sources
  • Literature

Red CC2D2A in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.32

review Not set
Sources
  • Emory Genetics Laboratory

Green CC2D2A in Hydrocephalus


Version 2.116
Latest signed off version: v2.3 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 9, OMIM:612285

Red CC2D2A in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.12

review Not set
Sources
  • Emory Genetics Laboratory

No list CC2D2A in Limb disorders


Version 2.57
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Victorian Clinical Genetics Services
    • Emory Genetics Laboratory
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Meckel syndrome 6, 612284
    • Polydactyly
    Tags
    • curated_removed

    No list CC2D2A in Cholestasis


    Version 1.87
    Latest signed off version: v1.21 (20 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Other
    • NHS GMS
    Phenotypes
    • COACH syndrome 216360
    • Meckel syndrome 6 612284
    • Joubert syndrome 9 612285
    • Congenital hepatic fibrosis
    • Ciliopathy
    Tags
    • curated_removed

    Green CC2D2A in Ductal plate malformation


    Version 1.18

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Joubert syndrome 9 (612285)
    • Meckel syndrome 6 (612284)
    • COACH syndrome (216360)
    • congenital hepatic fibrosis

    Red CC2D2A in Polycystic liver disease interim


    Version 1.23
    Latest signed off version: v1.4 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • COACH syndrome (216360)
    • congenital hepatic fibrosis
    • Joubert syndrome 9 (612285)
    • Meckel syndrome 6 (612284)

    Red CC2D2A in Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 2.26
    Latest signed off version: v2.2 (19 Feb 2020)

    Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review Not set
    Sources
    • Expert Review Red
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease

    Red CC2D2A in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.96

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review Not set
    Sources
    • Expert Review Red
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease

    Green CC2D2A in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.44

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • COACH syndrome, 216360

    Red CC2D2A in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.32

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies

    Green CC2D2A in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.126
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Meckel syndrome 6 612284

    Green CC2D2A in Unexplained paediatric onset end-stage renal disease


    Version 1.20
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    • Joubert syndrome 9 612285
    • Meckel syndrome 6 612284

    Green CC2D2A in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • JOUBERT SYNDROME 9
    • COACH SYNDROME
    • MECKEL SYNDROME, TYPE 6

    Green CC2D2A in DDG2P


    Version 2.46
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • JOUBERT SYNDROME 9 612285
    • COACH SYNDROME 216360
    • MECKEL SYNDROME, TYPE 6 612284

    Green CC2D2A in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.49
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Meckel syndrome 6, 612284
    • MKS6
    • Meckel-Gruber syndrome

    Green CC2D2A in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.429
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • COACH syndrome 216360
    • Joubert syndrome 9 612285

    Green CC2D2A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1306
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Joubert syndrome 9, 612285Meckel syndrome 6, 612284COACH syndrome, 216360
    • MECKEL SYNDROME, TYPE 6
    • MKS6

    Green CC2D2A in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.209
    Latest signed off version: v2.195 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • COACH syndrome, 216360
    • Joubert syndrome 9, 612285
    • Meckel syndrome 6, 612284
    • Eye Disorders

    Green CC2D2A in Structural eye disease


    Version 1.81
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • COACH syndrome, 216360

    Green CC2D2A in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.146

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Eligibility statement prior genetic testing
    • Other
    • Orphanet
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome 9
    • Meckel syndrome 6
    • COACH syndrome
    • Joubert syndrome with oculorenal defect
    • Meckel syndrome

    Green CC2D2A in Ophthalmological ciliopathies


    Version 1.19
    Latest signed off version: v1.3 (19 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Orphanet
    • Eligibility statement prior genetic testing
    • Expert list
    • Expert Review Green
    • Other
    Phenotypes
    • Joubert syndrome 9
    • COACH syndrome
    • Joubert syndrome with oculorenal defect
    • Meckel syndrome 6
    • Meckel syndrome

    Green CC2D2A in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.18
    Latest signed off version: v1.5 (4 Mar 2020)

    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
    • Joubert syndrome 9
    • COACH syndrome
    • Joubert syndrome with oculorenal defect
    • Meckel syndrome 6
    • Meckel syndrome

    Green CC2D2A in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.42
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Orphanet
    • Eligibility statement prior genetic testing
    • Expert list
    • Expert Review Green
    • Other
    Phenotypes
    • Joubert syndrome 9
    • COACH syndrome
    • Joubert syndrome with oculorenal defect
    • Meckel syndrome 6
    • Meckel syndrome

    Red CC2D2A in Childhood onset dystonia or chorea or related movement disorder


    Version 1.156
    Latest signed off version: v1.137 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • COACH syndrome
    • Joubert syndrome with oculorenal defect
    • Meckel syndrome 6
    • Meckel syndrome
    • Joubert syndrome 9

    Green CC2D2A in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Meckel syndrome 6, 612284
    • COACH syndrome, 216360
    • Joubert syndrome 9, 612285