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Fetal anomalies

Gene: AK2

Red List (low evidence)

AK2 (adenylate kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000004455
EnsemblGeneIds (GRCh37): ENSG00000004455
OMIM: 103020, Gene2Phenotype
AK2 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Presentation is typically post-natal.
Created: 20 Dec 2021, 12:28 a.m. | Last Modified: 20 Dec 2021, 12:28 a.m.
Panel Version: 0.1465

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Reticular dysgenesis, MIM# 267500; MONDO:0009973

Publications

Details

History Filter Activity

20 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ak2 has been classified as Red List (Low Evidence).

20 Dec 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AK2 were changed from RETICULAR DYSGENESIS to Reticular dysgenesis, MIM# 267500; MONDO:0009973

20 Dec 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AK2 were set to

24 Oct 2021, Gel status: 1

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 Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AK2 were set to RETICULAR DYSGENESIS