Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: SQSTM1

Amber List (moderate evidence)

SQSTM1 (sequestosome 1)
EnsemblGeneIds (GRCh38): ENSG00000161011
EnsemblGeneIds (GRCh37): ENSG00000161011
OMIM: 601530, Gene2Phenotype
SQSTM1 is in 12 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 19 Apr 2021, 1:13 p.m. | Last Modified: 19 Apr 2021, 1:13 p.m.
Panel Version: 2.119

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

19 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: sqstm1 has been classified as Amber List (Moderate Evidence).

19 Apr 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: SQSTM1.

19 Apr 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SQSTM1 were set to 27545679

19 Apr 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SQSTM1 were changed from Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145 to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145

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