Childhood onset dystonia, chorea or related movement disorder
Gene: SQSTM1
Comment on list classification: There is sufficient evidence (three unrelated families) available for promoting this gene to green rating at the next major update.Created: 9 Aug 2023, 7:29 p.m. | Last Modified: 9 Aug 2023, 7:29 p.m.
Panel Version: 3.29
PMID:27545679 - Three different biallelic variants in SQSTM1 gene were identified in nine patients from four unrelated families reported with a neurodegenerative disorder, which had its onset between seven and fifteen years of age. This disorder is characterised by gait abnormalities, ataxia, dysarthria, dystonia, vertical gaze palsy, and cognitive decline. Seven patients from three families had dystonia.Created: 9 Aug 2023, 7:27 p.m. | Last Modified: 9 Aug 2023, 7:27 p.m.
Panel Version: 3.27
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145
Publications
PMID: 27545679 - 9 patients (4 families) with childhood/adolescent onset neurodegeneration syndrome. 7/9 patients presented with dystonia.
Sources: Expert listCreated: 10 Sep 2020, 8:57 a.m. | Last Modified: 10 Sep 2020, 8:58 a.m.
Panel Version: 1.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145
Publications
Tag Q3_23_promote_green tag was added to gene: SQSTM1.
Gene: sqstm1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SQSTM1 were changed from Myopathy, distal, with rimmed vacuoles , MIM#617158 to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145
gene: SQSTM1 was added gene: SQSTM1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SQSTM1 were set to 27545679 Phenotypes for gene: SQSTM1 were set to Myopathy, distal, with rimmed vacuoles , MIM#617158 Review for gene: SQSTM1 was set to GREEN