Cytopenias and congenital anaemias
Gene: ANK1

ANK1 (ankyrin 1)
EnsemblGeneIds (GRCh38): ENSG00000029534
EnsemblGeneIds (GRCh37): ENSG00000029534
OMIM: 612641, Gene2Phenotype
ANK1 is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Change status from Amber to Green as there is enough evidence to support this gene causing the Spherocytosis phenotype
Created: 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.

Created: 28 Feb 2017, 1:57 p.m.

Panel version: 0.193

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Created: 16 Jan 2017, 3:45 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
BRIDGE consortium (NIHRBR-RD)

Phenotypes

RBC membrane abnormality
Spherocytosis, type 1,182900

OMIM

612641

Clinvar variants

Variants in ANK1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

28 Feb 2017, Gel status: 4