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  2. Peroxisomal Disorders
  3. ARSE
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Peroxisomal Disorders

Gene: ARSE

Green List (high evidence)
ARSE (arylsulfatase E (chondrodysplasia punctata 1))
EnsemblGeneIds (GRCh38): ENSG00000157399
EnsemblGeneIds (GRCh37): ENSG00000157399
OMIM: 300180, Gene2Phenotype
ARSE is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Note HGNC approved name is ARSL.
Created: 4 Aug 2020, 11:50 p.m. | Last Modified: 4 Aug 2020, 11:50 p.m.
Panel Version: 0.15
Created: 4 Aug 2020, 11:50 p.m.
Last Modified: 4 Aug 2020, 11:50 p.m.
Panel version: 0.15

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Well reported in males with Chondrodysplasia punctata due to deficiency of arylsulfatase E activity.
Sources: Expert Review
Created: 20 Jul 2020, 3:09 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Chondrodysplasia punctata, X-linked recessive (MIM#302950)

Publications

Created: 20 Jul 2020, 3:09 a.m.

Panel version: 0.4

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Chondrodysplasia punctata, X-linked recessive (MIM#302950)
Tags
new gene name
OMIM
300180
Clinvar variants
Variants in ARSE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Aug 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: ARSE.

20 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Jul 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: ARSE was added gene: ARSE was added to Peroxisomal Disorders. Sources: Expert Review Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ARSE were set to 23470839 Phenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive (MIM#302950) Review for gene: ARSE was set to AMBER