Palmoplantar keratodermas
Gene: ARSE
ARSE (arylsulfatase E (chondrodysplasia punctata 1))
EnsemblGeneIds (GRCh38): ENSG00000157399
EnsemblGeneIds (GRCh37): ENSG00000157399
OMIM: 300180, Gene2Phenotype
ARSE is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000157399
EnsemblGeneIds (GRCh37): ENSG00000157399
OMIM: 300180, Gene2Phenotype
ARSE is in 12 panels
3 reviews
Zornitza Stark (Australian Genomics)
Cannot find association with PPK. Some patients present with ichthyosis but only with larger chromosomal deletions that also delete adjacent genes (e.g. STS)Created: 19 Aug 2020, 6:34 a.m. | Last Modified: 19 Aug 2020, 6:34 a.m.
Panel Version: 1.3
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for ARSE is ARSLCreated: 6 Sep 2019, 4:05 p.m. | Last Modified: 6 Sep 2019, 4:05 p.m.
Panel Version: 0.8
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: ARSE; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 28 Jan 2019, 10:47 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Chondrodysplasia punctata
- Tags
- OMIM
- 300180
- Clinvar variants
- Variants in ARSE
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Palmoplantar keratodermas
- Peroxisomal disorders
- Limb disorders
- DDG2P
- Chondrodysplasia punctata
- Intellectual disability
- Fetal anomalies
- Pigmentary skin disorders
- Undiagnosed metabolic disorders
- Skeletal dysplasia
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.
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to ARSE.
28 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: ARSE was added gene: ARSE was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS 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