Nucleotide metabolism disorders
Gene: ADSL

ADSL (adenylosuccinate lyase)
EnsemblGeneIds (GRCh38): ENSG00000239900
EnsemblGeneIds (GRCh37): ENSG00000239900
OMIM: 608222, Gene2Phenotype
ADSL is in 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Adenylosuccinase deficiency is an autosomal recessive inborn error of purine metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway. Well-established gene-disease association (see OMIM). Knockout mouse model is homozygous lethal.
Sources: NHS GMS
Created: 22 Jan 2021, 5:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adenylosuccinase deficiency MIM#103050

Publications

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

Created: 22 Jan 2021, 5:44 a.m.

Panel version: Imported from Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.20

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

disorder of purine metabolism
Adenylosuccinase deficiency MIM#103050

OMIM

608222

Clinvar variants

Variants in ADSL

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ADSL was added gene: ADSL was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADSL were set to 1302001; 22180458; 27626380; 18524658 Phenotypes for gene: ADSL were set to disorder of purine metabolism; Adenylosuccinase deficiency MIM#103050

Nucleotide metabolism disorders Gene: ADSL