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Epileptic encephalopathy

Gene: ADSL

Green List (high evidence)

ADSL (adenylosuccinate lyase)
EnsemblGeneIds (GRCh38): ENSG00000239900
EnsemblGeneIds (GRCh37): ENSG00000239900
OMIM: 608222, Gene2Phenotype
ADSL is in 7 panels

4 reviews

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
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Adenylosuccinase deficiency
OMIM
608222
Clinvar variants
Variants in ADSL
Penetrance
Complete
Publications
  • Kmoch et al (2000) Hum Mol Genet 9(10): 1501-1513
Panels with this gene

History Filter Activity

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ADSL were set to Adenylosuccinase deficiency

17 Dec 2015, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ADSL were set to Kmoch et al (2000) Hum Mol Genet 9(10): 1501-1513

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

ADSL was added to Epileptic encephalopathypanel. Sources: Expert Review Green

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ADSL was changed to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ADSL was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ADSL was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert