Genes in panel

Neurodegenerative disorders - adult onset

Gene: SS18L1

Amber List (moderate evidence)

SS18L1 (SS18L1, nBAF chromatin remodeling complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000184402
EnsemblGeneIds (GRCh37): ENSG00000184402
OMIM: 606472, Gene2Phenotype
SS18L1 is in 1 panel

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Two families and two sporadic cases with at least one de novo variant identified.
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Amyotrophic lateral sclerosis, 105400

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Amyotrophic lateral sclerosis 105400
OMIM
606472
Clinvar variants
Variants in SS18L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to SS18L1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

23 Jul 2019, Gel status: 3

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SS18L1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Amyotrophic lateral sclerosis 105400 for gene: SS18L1 Publications for gene SS18L1 were changed from to 23708140; 24360741

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SS18L1.

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SS18L1.

23 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SS18L1 was added gene: SS18L1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SS18L1 was set to