CANT1

calcium activated nucleotidase 1
OMIM: 613165, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green CANT1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.95

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nonimmune hydrops fetalis
Green CANT1 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Desbuquois dysplasia 1 251450
    • multiple epiphyseal dysplasia type 7, 617719.
    Green CANT1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.158
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epiphyseal dysplasia, multiple, 7, 617719
    • Desbuquois dysplasia 1, 251450
    No list CANT1 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 CANT1 in DDG2P


    Version 6.427
    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
    • Desbuquois dysplasia 1, OMIM:251450
    Red CANT1 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 Not set
    Sources
    • Expert Review Red
    Phenotypes
    • DESBUQUOIS DYSPLASIA 1
    • DBQD1
    Red CANT1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.325
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Not set
    Sources
    • Victorian Clinical Genetics Services