Childhood onset dystonia, chorea or related movement disorder

Gene: SQSTM1

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 4 May 2024, 6:04 p.m. | Last Modified: 4 May 2024, 6:12 p.m.

Panel Version: 4.3

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

• 27545679

Green List (high evidence)

PMID: 27545679 - 9 patients (4 families) with childhood/adolescent onset neurodegeneration syndrome. 7/9 patients presented with dystonia.
Sources: Expert list

Created: 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

• 27545679