SQSTM1

sequestosome 1
OMIM: 601530, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Amber SQSTM1 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (MIM#616437)
Amber SQSTM1 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:0014640
Green SQSTM1 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145
Green SQSTM1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145
Green SQSTM1 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145
Green SQSTM1 in Dystonia and Chorea Level 2: Neurology and neurodevelopmental disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145
Amber SQSTM1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes myopathy, distal, with rimmed vacuoles MONDO:0014945 multisystem proteinopathy
Green SQSTM1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive
Amber SQSTM1 in Incidentalome_PREGEN_DRAFT Version 1.0	1 review	Unknown	Sources Expert Review Amber NSW Health Pathology
Red SQSTM1 in Neurodegeneration with brain iron accumulation Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ataxia dystonia gaze palsy neuroregression cognitive decline childhood dementia
Green SQSTM1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM#617145