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STRs in panel
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Inborn errors of metabolism

Gene: ARSG

Red List (low evidence)

ARSG (arylsulfatase G)
EnsemblGeneIds (GRCh38): ENSG00000141337
EnsemblGeneIds (GRCh37): ENSG00000141337
OMIM: 610008, Gene2Phenotype
ARSG is in 3 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment on phenotypes: Including neuronal ceroid lipofuscinosis
Created: 1 Jul 2019, 1:21 p.m. | Last Modified: 1 Jul 2019, 1:21 p.m.
Panel Version: 1.112
Candidate gene for neuronal ceroid lipofuscinosis as reported in dogs and mice models (PubMed: 20679209, 22689975, 25452429, 26975023) and in 5 affected members of 3 consanguineous Yemenite Jewish families (PMID 29300381).
Created: 23 Jan 2017, 11:58 a.m. | Last Modified: 1 Jul 2019, 1:51 p.m.
Panel Version: 1.114

Mode of inheritance
Unknown

Phenotypes
neuronal ceroid lipofuscinosis

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • neuronal ceroid lipofuscinosis
OMIM
610008
Clinvar variants
Variants in ARSG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ARSG was added gene: ARSG was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ARSG was set to Unknown Publications for gene: ARSG were set to 26975023; 20679209; 25452429 Phenotypes for gene: ARSG were set to neuronal ceroid lipofuscinosis