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  3. ALS2
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BRIDGE_SPEED_NEURO_20170705

Gene: ALS2

Green List (high evidence)
ALS2 (ALS2, alsin Rho guanine nucleotide exchange factor)
EnsemblGeneIds (GRCh38): ENSG00000003393
EnsemblGeneIds (GRCh37): ENSG00000003393
OMIM: 606352, Gene2Phenotype
ALS2 is in 9 panels

1 review

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_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_omim_20150205_movement;in_movement_disorder_list . Main mutation mechanism : NA
Created: 28 Jul 2017, 8:39 a.m.

Mode of inheritance
Unknown

Publications

  • 25529582
  • omim.org
  • Personal communication with NIHRBRRD BRIDGE SPEED

Created: 2 Aug 2017, 1:14 p.m.

Panel version: 0.191

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Amyotrophic lateral sclerosis 2, juvenile, 205100
  • Primary lateral sclerosis, juvenile, 606353
  • Spastic paralysis, infantile onset ascending, 607225
OMIM
606352
Clinvar variants
Variants in ALS2
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ALS2 were set to Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

ALS2 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)

ALS2 was created by LouiseD