TAPT1

transmembrane anterior posterior transformation 1
OMIM: 612758, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Red TAPT1 in COVID-19 research


Level 2: Viral research
Version 1.147

review Not set
Sources
  • Literature
Red TAPT1 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.8
Latest signed off version: v7.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pediatric posterior lenticonus cataract
Red TAPT1 in Respiratory ciliopathies including non-CF bronchiectasis


Level 2: Respiratory
Version 4.55
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Green TAPT1 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
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
    Green TAPT1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.169
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • COMPLEX LETHAL OSTEOCHONDRODYSPLASIA
    Green TAPT1 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Osteogenesis Imperfecta
    Green TAPT1 in DDG2P


    Version 6.438
    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
    • COMPLEX LETHAL OSTEOCHONDRODYSPLASIA
    Red TAPT1 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 Red
    • Expert list
    Phenotypes
    • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
    Red TAPT1 in Neurological ciliopathies


    Level 2: Neurology
    Version 6.15
    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 Red
    Phenotypes
    • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
    Red TAPT1 in Skeletal ciliopathies


    Level 2: Musculoskeletal
    Version 6.7
    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 Red
    • Expert list
    Phenotypes
    • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897