Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: SQSTM1

No list

SQSTM1 (sequestosome 1)
EnsemblGeneIds (GRCh38): ENSG00000161011
EnsemblGeneIds (GRCh37): ENSG00000161011
OMIM: 601530, Gene2Phenotype
SQSTM1 is in 11 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated families, presenting feature of this progressive neurological disorder was ataxia.
Sources: Expert list
Created: 13 Sep 2020, 6:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

13 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: SQSTM1 was added gene: SQSTM1 was added to Ataxia and cerebellar anomalies - narrow panel. 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 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145 Review for gene: SQSTM1 was set to GREEN gene: SQSTM1 was marked as current diagnostic