Bone Marrow Failure

Gene: AK2

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Reticular dysgenesis

Publications

• 19043417
• 19043416

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

Green List (high evidence)

Well established gene-disease association.

PMID: 19043417 (2009). 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.

PMID: 19043416 (2009). 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF. Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.

Created: 13 Sep 2020, 8:33 a.m. | Last Modified: 15 Jul 2021, 2:50 a.m.

Panel Version: 1.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Reticular dysgenesis, MIM# 267500; MONDO:0009973

Publications

• 19043416
• 19043417