Nucleotide metabolism disorders
Gene: AK2
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: 15 Jun 2021, 9:59 a.m. | Last Modified: 15 Jul 2021, 2:52 a.m.
Panel Version: 0.8326
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Reticular dysgenesis, MIM# 267500; MONDO:0009973
Publications
gene: AK2 was added gene: AK2 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AK2 were set to 19043417; 19043416 Phenotypes for gene: AK2 were set to reticular dysgenesis MONDO:0009973; Disorders of purine metabolism