Bone Marrow Failure
Gene: ANKRD26

ANKRD26 (ankyrin repeat domain 26)
EnsemblGeneIds (GRCh38): ENSG00000107890
EnsemblGeneIds (GRCh37): ENSG00000107890
OMIM: 610855, Gene2Phenotype
ANKRD26 is in 8 panels

2 reviews

Santosh Varughese (University of Melbourne)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
21211618

Publications

Thrombocytopaenia 2

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 May 2024, 7:24 a.m.
Last Modified: 22 May 2024, 7:24 a.m.
Panel version: 1.91

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Note promoter variants.
Created: 15 Jun 2021, 10:04 a.m. | Last Modified: 15 Jun 2021, 10:04 a.m.

Panel Version: 0.227

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombocytopaenia 2, MIM# 188000

Publications

21211618

Created: 15 Jun 2021, 10:04 a.m.
Last Modified: 15 Jun 2021, 10:04 a.m.
Panel version: 0.227

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Thrombocytopaenia 2, MIM# 188000

Tags

5'UTR

OMIM

610855

Clinvar variants

Variants in ANKRD26

Penetrance

None

Publications

21211618

Panels with this gene