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Red cell disorders

Gene: ANK1

Green List (high evidence)
ANK1 (ankyrin 1)
EnsemblGeneIds (GRCh38): ENSG00000029534
EnsemblGeneIds (GRCh37): ENSG00000029534
OMIM: 612641, Gene2Phenotype
ANK1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hereditary spherocytosis is characterized by the presence of spherical-shaped erythrocytes (spherocytes). The disorders are characterized clinically by anaemia, jaundice, and splenomegaly, with variable severity. Common complications include cholelithiasis, haemolytic episodes, and aplastic crises.

Well established gene-disease association.
Created: 4 Sep 2021, 10:03 p.m. | Last Modified: 4 Sep 2021, 10:03 p.m.
Panel Version: 0.28

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spherocytosis, type 1, MIM# 182900

Publications

Created: 4 Sep 2021, 10:03 p.m.
Last Modified: 4 Sep 2021, 10:03 p.m.
Panel version: 0.28

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Spherocytosis, type 1, MIM# 182900
OMIM
612641
Clinvar variants
Variants in ANK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ank1 has been classified as Green List (High Evidence).

4 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANK1 were changed from Spherocytosis, type 1; Spherocytosis, type 1,182900; RBC membrane abnormality; 182900 Spherocytosis, type 1; 182900 RBC membrane abnormality to Spherocytosis, type 1, MIM# 182900

4 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANK1 were set to 7883994; 9590147; 11167760

15 Oct 2020, Gel status: 3

Set Phenotypes, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Spherocytosis, type 1; Spherocytosis, type 1,182900; RBC membrane abnormality; 182900 Spherocytosis, type 1; 182900 RBC membrane abnormality for gene: ANK1 Publications for gene ANK1 were updated from 9590147; 7883994; 11167760 to 7883994; 9590147; 11167760

15 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANK1 was added gene: ANK1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: ANK1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ANK1 were set to 9590147; 7883994; 11167760 Phenotypes for gene: ANK1 were set to 182900 Spherocytosis, type 1; 182900 RBC membrane abnormality; Spherocytosis, type 1; RBC membrane abnormality; Spherocytosis, type 1,182900