Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: ARSE

Green List (high evidence)

ARSE (arylsulfatase E (chondrodysplasia punctata 1))
EnsemblGeneIds (GRCh38): ENSG00000157399
EnsemblGeneIds (GRCh37): ENSG00000157399
OMIM: 300180, Gene2Phenotype
ARSE is in 13 panels

1 review

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ARSE is ARSL
Created: 6 Sep 2019, 4:06 p.m. | Last Modified: 6 Sep 2019, 4:06 p.m.
Panel Version: 1.262

History Filter Activity

6 Sep 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

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

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ARSE was added gene: ARSE was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive 302950