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  3. SS18L1
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Motor Neurone Disease

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 2 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Classified Limited by ClinGen Expert Panel - https://search.clinicalgenome.org/CCID:006276

"This classification was approved by the ClinGen ALS GCEP on the meeting date May 25, 2023 (SOP Version 9)."
Created: 8 Apr 2024, 9:52 a.m. | Last Modified: 8 Apr 2024, 9:52 a.m.
Panel Version: 1.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
amyotrophic lateral sclerosis (MONDO:0004976)

Publications

  • https://search.clinicalgenome.org/CCID:006276

Created: 8 Apr 2024, 9:52 a.m.
Last Modified: 8 Apr 2024, 9:52 a.m.
Panel version: 1.8

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 cases with heterozygote variants (de novo status confirmed or expected), and supporting functional evidence.
Sources: Expert list
Created: 31 Mar 2020, 11:25 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
amyotrophic lateral sclerosis

Publications

Created: 31 Mar 2020, 11:25 p.m.

Panel version: 0.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • amyotrophic lateral sclerosis (MONDO:0004976)
OMIM
606472
Clinvar variants
Variants in SS18L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SS18L1 were changed from amyotrophic lateral sclerosis to amyotrophic lateral sclerosis (MONDO:0004976)

19 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ss18l1 has been classified as Amber List (Moderate Evidence).

31 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ss18l1 has been classified as Green List (High Evidence).

31 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ss18l1 has been classified as Green List (High Evidence).

31 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SS18L1 was added gene: SS18L1 was added to Motor Neuron Disease. Sources: Expert list Mode of inheritance for gene: SS18L1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SS18L1 were set to 25888396; 24360741; 23708140; 30976389 Phenotypes for gene: SS18L1 were set to amyotrophic lateral sclerosis Review for gene: SS18L1 was set to GREEN