ANAPC1

anaphase promoting complex subunit 1
OMIM: 608473, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green ANAPC1 in Ectodermal dysplasia


Version 3.28
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Green ANAPC1 in Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.27

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Green ANAPC1 in Pigmentary skin disorders


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Green ANAPC1 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.8
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Green ANAPC1 in Cutaneous photosensitivity with a likely genetic cause


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Amber ANAPC1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.52
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 Amber
    • Literature
    Phenotypes
    • Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
    Tags
    • for-review
    • to_be_confirmed_NHSE
    Green ANAPC1 in Fetal anomalies


    Version 3.137
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Rothmund-Thomson Syndrome Type 1
    Green ANAPC1 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Rothmund-Thomson Syndrome Type 1
    Green ANAPC1 in Growth failure in early childhood


    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368