Hyperammonaemia

Gene: ARSA

Red List (low evidence)

ARSA (arylsulfatase A)
EnsemblGeneIds (GRCh38): ENSG00000100299
EnsemblGeneIds (GRCh37): ENSG00000100299
OMIM: 607574, Gene2Phenotype
ARSA is in 20 panels

2 reviews

Peter Clayton (UCL Institute of Child Health)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Metachromatic leukodystrophy, aryl sulphatase A deficiency

Ellen McDonagh (Genomics England Curator)

Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.

History Filter Activity

22 Nov 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 on 22nd November 2016

22 Nov 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ARSA were set to Metachromatic leukodystrophy 250100

22 Nov 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for ARSA was changed to BIALLELIC, autosomal or pseudoautosomal

5 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

ARSA was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory