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Genetic epilepsy syndromes

Gene: ASPA

Green List (high evidence)

ASPA (aspartoacylase)
EnsemblGeneIds (GRCh38): ENSG00000108381
EnsemblGeneIds (GRCh37): ENSG00000108381
OMIM: 608034, Gene2Phenotype
ASPA is in 10 panels

4 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)

AR Canavan disease - onset in early infancy of atonia of neck muscles, hypotonia, hyperextension of legs and felxion of arms, blindness, severe mental defect, megalocephaly and death often by 18 months. Feigelman et al, 1991 - 33 year old women with Canavan - generalised seizures at 8 years of age. Janson et al, 2006 - 2 sisters with a mild form of disease - both had seizures and compund het missense variants identified. Mendes et al, 3/11 patients had epilepsy.
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
Canavan disease, 271900

Publications

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on review by Dr Arianna Tucci (Genomics England Clinical Fellow and Curator)
Created: 17 Jul 2018, 10:07 a.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Associated with the relevant phenotype in OMIM, and epilepsy is part of the phenotype
Created: 5 Jul 2018, 10:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Canavan disease 271900

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Canavan disease 271900
OMIM
608034
Clinvar variants
Variants in ASPA
Penetrance
None
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 ASPA.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ASPA.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Arianna Tucci: Associated with the relevant p

17 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: aspa has been classified as Green List (High Evidence).

17 Jul 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ASPA were set to Canavan disease 271900

17 Jul 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: ASPA was changed from to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: aspa has been classified as Green List (High Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to ASPA. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ASPA was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

ASPA was created by Sarah Leigh