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Genetic epilepsy syndromes

Gene: ADSL

Green List (high evidence)

ADSL (adenylosuccinate lyase)
EnsemblGeneIds (GRCh38): ENSG00000239900
EnsemblGeneIds (GRCh37): ENSG00000239900
OMIM: 608222, Gene2Phenotype
ADSL is in 8 panels

6 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

A -49T>C mutation in the 5' untranslated region has been reported as pathogenic (PMID: 12016589). AR Adenylosuccinase deficiency. Refractory seizures are a feature. Mostly missense variants reported in the literature in association with this condition but a few stop, splicing and small del/ins. The R426H is relatively common. Exression studies by Kmoch et al 2000, showed that the level of residual enzyme activity correlated with the severity of the clinical phenotype.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adenylosuccinase deficiency, 103050

Publications

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adenylosuccinase deficiency

Publications

  • Kmoch et al (2000) Hum Mol Genet 9(10): 1501-1513

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

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adenylosuccinase deficiency

Publications

  • Kmoch et al (2000) Hum Mol Genet 9(10): 1501-1513

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

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adenylosuccinase deficiency

Publications

  • Kmoch et al (2000) Hum Mol Genet 9(10): 1501-1513

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

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adenylosuccinase deficiency

Publications

  • Kmoch et al (2000) Hum Mol Genet 9(10): 1501-1513

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • UKGTN
  • Expert
  • Expert Review Green
Phenotypes
  • Adenylosuccinase deficiency
OMIM
608222
Clinvar variants
Variants in ADSL
Penetrance
None
Publications
  • Kmoch et al (2000) Hum Mol Genet 9(10): 1501-1513
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ADSL.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ADSL.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to ADSL. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

ADSL was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

ADSL was created by Sarah Leigh