1. Panels
  2. BRIDGE_SPEED_NEURO_20170705
  3. ARSE
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BRIDGE_SPEED_NEURO_20170705

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, 4:04 p.m. | Last Modified: 6 Sep 2019, 4:04 p.m.
Panel Version: 0.201
Created: 6 Sep 2019, 4:04 p.m.
Last Modified: 6 Sep 2019, 4:04 p.m.
Panel version: 0.201

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known;in_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 8:42 a.m.

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

Publications

Created: 2 Aug 2017, 1:16 p.m.

Panel version: 0.191

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Chondrodysplasia punctata, X-linked recessive, 302950
Tags
new-gene-name
OMIM
300180
Clinvar variants
Variants in ARSE
Penetrance
Complete
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.

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

ARSE was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

ARSE was created by LouiseD