SS18L1

SS18L1 subunit of BAF chromatin remodeling complex
OMIM: 606472, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber SS18L1 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • amyotrophic lateral sclerosis (MONDO:0004976)

Amber SS18L1 in Incidentalome


Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • amyotrophic lateral sclerosis (MONDO:0004976)