Activity
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| Ataxia and cerebellar anomalies - narrow panel v3.30 | SQSTM1 | Eleanor Williams Tag Q2_21_rating was removed from gene: SQSTM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.30 | SQSTM1 | Eleanor Williams reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.29 | SQSTM1 |
Eleanor Williams Source Expert Review Green was added to SQSTM1. Source NHS GMS was added to SQSTM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v2.119 | SQSTM1 | Ivone Leong Classified gene: SQSTM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.119 | SQSTM1 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.119 | SQSTM1 | Ivone Leong Gene: sqstm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.118 | SQSTM1 | Ivone Leong Tag Q2_21_rating tag was added to gene: SQSTM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.118 | SQSTM1 | Ivone Leong Publications for gene: SQSTM1 were set to 27545679 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.117 | SQSTM1 | Ivone Leong 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.12 | SQSTM1 |
Zornitza Stark 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 Added comment: Four unrelated families, presenting feature of this progressive neurological disorder was ataxia. Sources: Expert list |
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