Neurodegenerative disorders - adult onsetGene: SS18L1
>3 cases with heterozygous variants (de novo status confirmed or expected), and supporting functional evidence.
Created: 28 Sep 2020, 4:13 a.m. | Last Modified: 28 Sep 2020, 4:13 a.m.
Panel Version: 2.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Amyotrophic lateral sclerosis
Variants in this GENE are reported as part of current diagnostic practice
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
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
Amyotrophic lateral sclerosis, 105400
Phenotypes for gene: SS18L1 were changed from Amyotrophic lateral sclerosis 105400 to Amyotrophic lateral sclerosis, MONDO:0004976
Publications for gene: SS18L1 were set to 23708140; 24360741
Source Expert Review Amber was added to SS18L1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
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
Source NHS GMS was added to SS18L1.
Source Yorkshire and North East GLH was added to SS18L1.
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