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Intellectual disability

Gene: ALS2

Red List (low evidence)

ALS2 (ALS2, alsin Rho guanine nucleotide exchange factor)
EnsemblGeneIds (GRCh38): ENSG00000003393
EnsemblGeneIds (GRCh37): ENSG00000003393
OMIM: 606352, Gene2Phenotype
ALS2 is in 10 panels

5 reviews

Zornitza Stark (Australian Genomics)

I don't know

Does it actually cause intellectual disability?
Created: 14 Jun 2018, 8:38 a.m.

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Downgraded from Green to Red. Although ALS2 causes neurological deterioration, ID is not a clear feature. This risks incidental findings in younger children for whom this panel is applied. It is appropriately green on the ALS and HSP panels.
Created: 8 Aug 2018, 11:22 a.m.
Comment on list classification: Changed from Green to Red after internal clinical feedback. Although variants causes neurological deterioration, ID is not a clear feature. This risks incidental findings in younger children for whom this panel is applied so should be downgraded to Red. It is appropriately green on the ALS and HSP panels.
Created: 8 Aug 2018, 11:22 a.m.
Due to a Amber external review from external reviewer, and looking at the info again in the literature I am not sure why this gene was rated as Green based on the evidence, it is a confirmed G2P but is listed as a brain/cognition gene, this is not ID. Past onto internal clinical team for further review and consideration to downgrade rating.
Created: 1 Aug 2018, 12:03 p.m.
Comment on phenotypes: added OMIN phenotype and MORBID ID
Created: 12 Jan 2018, 11:57 a.m.

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ALS2-RELATED DISORDERS

Publications

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: 27 Jul 2017, 5:03 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_201507; ddg2p_201507_conf; omim_20150205_movement; manju_list; GEL_ID_green_20160217; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 11:58 a.m.

Mode of inheritance
Unknown

Publications

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

Lu Raymond (university of cambridge )

I don't know

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ALS2-RELATED DISORDERS
  • Amyotrophic lateral sclerosis 2, juvenile, 205100
OMIM
606352
Clinvar variants
Variants in ALS2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: als2 has been classified as Red List (Low Evidence).

8 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: als2 has been classified as Red List (Low Evidence).

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Jan 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ALS2 were set to ALS2-RELATED DISORDERS; Amyotrophic lateral sclerosis 2, juvenile, 205100

3 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ALS2 was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ALS2 was created by ellenmcdonagh