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  3. ARSE
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Research panel - Severe Paediatric 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 12 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ARSL; Recommended initial gene rating: Green List (high evidence); Phenotypes: Chondrodysplasia punctata, X-linked recessive, 302950 (3); Mode of inheritance: X-linked recessive
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.
Panel Version: 0.12
Added new-gene-name tag, new approved HGNC gene symbol for ARSE is ARSL (current gene symbol submitted by Next Generation Children Project)
Created: 17 Feb 2020, 9:42 a.m. | Last Modified: 17 Feb 2020, 9:42 a.m.
Panel Version: 0.7
Created: 17 Feb 2020, 9:42 a.m.
Last Modified: 17 Feb 2020, 9:42 a.m.
Panel version: 0.12

Details

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

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ARSE was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ARSE were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Chondrodysplasia punctata, X-linked recessive, 302950 for gene: ARSE

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Chondrodysplasia punctata, X-linked recessive, 302950 for gene: ARSE

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Chondrodysplasia punctata, X-linked recessive, 302950 for gene: ARSE

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Chondrodysplasia punctata, X-linked recessive, 302950 for gene: ARSE

14 Feb 2020, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

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

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to ARSE.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ARSE. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ARSE was added gene: ARSE was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ARSE was set to