SQSTM1

sequestosome 1
OMIM: 601530, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green SQSTM1 in Distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.17 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Dystal Myopathy with rimmed vacuoles, 617158
Green SQSTM1 in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Dystal Myopathy with rimmed vacuoles, 617158
Green SQSTM1 in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145
Red SQSTM1 in Childhood solid tumours Level 3: Childhood Tumours Level 2: Tumour syndromes Version 4.18 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources Expert List
Green SQSTM1 in Sarcoma cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.25	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Paget disease of bone 3 167250 Osteosarcoma
Amber SQSTM1 in Childhood solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.27	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Paget disease of bone 3 167250 Osteosarcoma
Green SQSTM1 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, OMIM:616437
No list SQSTM1 in Amyotrophic lateral sclerosis/motor neuron disease Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.69	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Green SQSTM1 in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145
Green SQSTM1 in Sarcoma susceptibility Version 1.81 Latest signed off version: v1.2 (18 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert Review Green Expert list Phenotypes Paget disease of bone 3, OMIM:167250 Paget disease of bone 3, MONDO:0008176 Osteosarcoma (disease), MONDO:0009807
Amber SQSTM1 in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145 Tags Q3_23_promote_green
Green SQSTM1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Paget disease of bone 3, 167250 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 Myopathy, distal, with rimmed vacuoles, 617158