Inherited white matter disorders

Gene: ASPA

Green List (high evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, and is a confirmed DD gene for Canavan Disease. Multiple cases with different variants reported in OMIM from different ethnicities. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.
Created: 12 Aug 2016, 7:41 a.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_615

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

Details

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

12 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ASPA were set to 25655951; General Leukodystrophy & Mitochondrial Leukoencephalopathy

12 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

12 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ASPA were set to 25655951

12 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

ASPA was created by [email protected]

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

ASPA was added to Inherited white matter disorderspanel. Sources: Expert list