Cytopenias and congenital anaemias
Gene: ANK1Comment on list classification: Change status from Amber to Green as there is enough evidence to support this gene causing the Spherocytosis phenotypeCreated: 28 Feb 2017, 2:19 p.m.
Comment on publications: 1832935 (2 unrelated families), 17327413 ( 1 affected), 8640229 (13 unrelated affecteds)Created: 28 Feb 2017, 2:17 p.m.
Comment on mode of inheritance: Evidence for MOI PMID:8640229, PMID:11527968,Created: 28 Feb 2017, 1:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
RBC membrane abnormality; Spherocytosis
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for ANK1 were set to 1832935;17327413;8640229
Mode of inheritance for ANK1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
ANK1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Phenotypes for ANK1 were set to RBC membrane abnormality; Spherocytosis, type 1,182900
Phenotypes for ANK1 were set to RBC membrane abnormality;Spherocytosis, type 1
ANK1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
ANK1 was created by LouiseD