1. Genes and Genomic Entities
  2. CC2D2A

CC2D2A

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

28 panels

Panel Reviews Mode of inheritance Details
28 panels
Red CC2D2A in Familial Neural Tube Defects


Version 1.11

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 1.47

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 1.29

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 1.147

review Not set
Sources
  • Literature
Red CC2D2A in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.35

review Not set
Sources
  • Emory Genetics Laboratory
Green CC2D2A in Hydrocephalus


Level 2: Neurology
Version 5.12
Latest signed off version: v5.0 (7 Aug 2024)

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 1.24

review Not set
Sources
  • Emory Genetics Laboratory
No list CC2D2A in Limb disorders


Level 2: Musculoskeletal
Version 7.25
Latest signed off version: v7.0 (30 Apr 2025)

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


    Level 2: Gastrohepatology
    Version 3.19
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 1.31

    		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


    Level 2: Gastrohepatology
    Version 1.32
    Latest signed off version: v1.26 (22 Mar 2023)

    		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 2: Renal
    Version 8.8
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease

    		•  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 1.125

    		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 1.51

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    Phenotypes
    • COACH syndrome, 216360
    Red CC2D2A in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.56

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Green CC2D2A in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.40
    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
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Meckel syndrome 6 612284
    Green CC2D2A in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.185
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 6.447
    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
    • JOUBERT SYNDROME 9 612285
    • COACH SYNDROME 216360
    • MECKEL SYNDROME, TYPE 6 612284
    Green CC2D2A in Clefting


    Level 2: Musculoskeletal
    Version 6.23
    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
    • Expert list
    Phenotypes
    • Meckel syndrome 6, 612284
    • MKS6
    • Meckel-Gruber syndrome
    Green CC2D2A in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.173
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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 2: Developmental disorders
    Version 9.370
    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
    • 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 2: Ophthalmology
    Version 8.116
    Latest signed off version: v8.0 (30 Apr 2025)

    		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


    Level 2: Ophthalmology
    Version 4.40
    Latest signed off version: v4.0 (7 Aug 2024)

    		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 1.180

    		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


    Level 2: Ophthalmology
    Version 5.22
    Latest signed off version: v5.0 (30 Apr 2025)

    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 2: Neurology
    Version 6.17
    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
    • Joubert syndrome 9
    • COACH syndrome
    • Joubert syndrome with oculorenal defect
    • Meckel syndrome 6
    • Meckel syndrome
    Green CC2D2A in Renal ciliopathies


    Level 2: Renal
    Version 4.14
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  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, chorea or related movement disorder


    Level 2: Neurology
    Version 7.20
    Latest signed off version: v7.0 (30 Apr 2025)

    		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