Cytopenias and congenital anaemias
Gene: ANKRD26EnsemblGeneIds (GRCh38): ENSG00000107890
EnsemblGeneIds (GRCh37): ENSG00000107890
OMIM: 610855, Gene2Phenotype
ANKRD26 is in 9 panels
1 review
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Phenotype not appropriate (isolated platelet anomaly)Created: 28 Feb 2017, 1:08 p.m.
Comment on list classification: Not appropriate to phenotypic inclusion. It is on the inherited bleeding disorders panel which is appropriateCreated: 28 Feb 2017, 1:07 p.m.
Sufficient evidence of causation for AD thromobocytopaenia. However, this phenotype does not fit with the inclusion criteria. Therefore considered amber, although appropriate if the inclusion is widened to isolated platelet disorders. Please note that the mutations to date have been located in a clustered (19bp) region in the 5'UTR.Created: 28 Feb 2017, 10:05 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Thrombocytopenia 2 188000
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Thrombocytopenia 2, 188000
- Congenital amegkaryocytic thrombocytopenia
- Tags
- OMIM
- 610855
- Clinvar variants
- Variants in ANKRD26
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Cytopenias and congenital anaemias
- Bleeding and platelet disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Inherited bleeding disorders
- Fetal anomalies
History Filter Activity
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.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for ANKRD26 were set to 21211618
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)ANKRD26 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list
Created
Louise Daugherty (Genomics England Curator)ANKRD26 was created by LouiseD