Angelman Rett like syndromes
Gene: ADSL
ADSL (adenylosuccinate lyase)
EnsemblGeneIds (GRCh38): ENSG00000239900
EnsemblGeneIds (GRCh37): ENSG00000239900
OMIM: 608222, Gene2Phenotype
ADSL is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000239900
EnsemblGeneIds (GRCh37): ENSG00000239900
OMIM: 608222, Gene2Phenotype
ADSL is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Metabolic disorder characterised by ID, epilepsy, microcephaly and stereotypies.Created: 14 Nov 2020, 3:30 a.m. | Last Modified: 14 Nov 2020, 3:30 a.m.
Panel Version: 0.44
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenylosuccinase deficiency, MIM# 103050
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Adenylosuccinase deficiency, MIM# 103050
- OMIM
- 608222
- Clinvar variants
- Variants in ADSL
- Penetrance
- None
- Panels with this gene
History Filter Activity
14 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adsl has been classified as Green List (High Evidence).
14 Nov 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ADSL were changed from to Adenylosuccinase deficiency, MIM# 103050
14 Nov 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ADSL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ADSL was added gene: ADSL was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADSL was set to Unknown