ANK1

ankyrin 1
OMIM: 612641, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green ANK1 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • RBC membrane abnormality
  • Spherocytosis, type 1,182900
Green ANK1 in Rare anaemia


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

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 182900 Spherocytosis, type 1
  • 182900 RBC membrane abnormality
  • RBC membrane abnormality
  • Spherocytosis, type 1,182900
  • Spherocytosis, type 1
Green ANK1 in Severe Paediatric Disorders


Version 1.184

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Spherocytosis, type 1, 182900