IBMDx study
Gene: AK2
AK2 (adenylate kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000004455
EnsemblGeneIds (GRCh37): ENSG00000004455
OMIM: 103020, Gene2Phenotype
AK2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000004455
EnsemblGeneIds (GRCh37): ENSG00000004455
OMIM: 103020, Gene2Phenotype
AK2 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- IBMDx Study
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- MONDO:0009973
- Reticular dysgenesis, MIM# 267500
- OMIM
- 103020
- Clinvar variants
- Variants in AK2
- Penetrance
- None
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Nucleotide metabolism disorders
- Fetal anomalies
- Prepair 1000+
- Mendeliome
- Severe Combined Immunodeficiency (absent T absent B cells)
- IBMDx study
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Prepair 500+
History Filter Activity
10 Dec 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AK2 was added gene: AK2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: AK2 was set to Unknown Phenotypes for gene: AK2 were set to MONDO:0009973; Reticular dysgenesis, MIM# 267500