ANAPC1

anaphase promoting complex subunit 1
OMIM: 608473, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ANAPC1 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rothmund Thomson syndrome type 1, OMIM 618625
Tags
  • deep intronic

Green ANAPC1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rothmund Thomson syndrome type 1, OMIM 618625
Tags
  • deep intronic

Green ANAPC1 in Ectodermal Dysplasia


Level 2: Dermatological disorders
Version 0.86

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Rothmund-Thomson syndrome, type 1 MIM#618625
  • MONDO:0016368
Tags
  • deep intronic

Green ANAPC1 in Growth failure


Version 1.76

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Tags
  • deep intronic

Green ANAPC1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Literature
Phenotypes
  • Rothmund-Thomson syndrome, type 1, MIM# 618625