Genomics England
GMS Panels
Panels
Genes and Entities

SQSTM1

sequestosome 1
OMIM: 601530
PanelMode of inheritanceDetails
6 panels
Green
in Ataxia and cerebellar anomalies - childhood onset
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies, childhood onset
Signed-off version 9.22
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145
Green
in Distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 7.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystal Myopathy with rimmed vacuoles, 617158
Green
in Dystonia, chorea or related movement disorder, childhood onset
R-numbers: R57
Signed-off version 8.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145
Green
in Hereditary ataxia, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145
Green
in Neurodegenerative disorders, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, OMIM:616437
Green
in Sarcoma susceptibility
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Osteosarcoma, Paget disease of bone 3 167250