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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. ARSE
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GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: ARSE

Green List (high evidence)
ARSE (arylsulfatase E (chondrodysplasia punctata 1))
EnsemblGeneIds (GRCh38): ENSG00000157399
EnsemblGeneIds (GRCh37): ENSG00000157399
OMIM: 300180, Gene2Phenotype
ARSE is in 12 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for ARSE is ARSL
Created: 6 Sep 2019, 4:05 p.m. | Last Modified: 6 Sep 2019, 4:05 p.m.
Panel Version: 0.32
Created: 6 Sep 2019, 4:05 p.m.
Last Modified: 6 Sep 2019, 4:05 p.m.
Panel version: 0.32

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Skeletal defects include hypoplasia of the distal phalanges and chondrodysplasia punctata. Listed in Chondrodysplasia punctata gp of SD. XLR. Variants reported in >3 cases.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

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

Phenotypes
CDPXL; Chondrodysplasia punctata, X-linked recessive, 302950; X-linked recessive chondrodysplasia punctata; CHONDRODYSPLASIA PUNCTATA 1, X-LINKED

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • CDPXL
  • Chondrodysplasia punctata, X-linked recessive, 302950
  • CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
  • X-linked recessive chondrodysplasia punctata
Tags
new-gene-name
OMIM
300180
Clinvar variants
Variants in ARSE
Penetrance
None
Panels with this gene

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.

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: ARSE was added gene: ARSE was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,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 CDPXL; Chondrodysplasia punctata, X-linked recessive, 302950; CHONDRODYSPLASIA PUNCTATA 1, X-LINKED; X-linked recessive chondrodysplasia punctata