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Hereditary ataxia with onset in adulthood v8.25 EXOSC8 Arina Puzriakova Tag Q3_25_expert_review was removed from gene: EXOSC8.
Tag Q3_25_demote_red was removed from gene: EXOSC8.
Hereditary ataxia with onset in adulthood v8.25 EXOSC8 Achchuthan Shanmugasundram reviewed gene: EXOSC8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v8.24 EXOSC8 Arina Puzriakova Source Expert Review Red was added to EXOSC8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia with onset in adulthood v8.11 EXOSC8 Arina Puzriakova Tag Q3_25_expert_review tag was added to gene: EXOSC8.
Hereditary ataxia with onset in adulthood v8.10 EXOSC8 Arina Puzriakova Classified gene: EXOSC8 as Green List (high evidence)
Hereditary ataxia with onset in adulthood v8.10 EXOSC8 Arina Puzriakova Added comment: Comment on list classification: This gene should be demoted from Green to Red on this panel.

There are currently five reported families with biallelic variants in this gene, all presenting with an infantile-onset disorder (latest reported age of onset is 6 months) (PMIDs: 24989451; 38017281; 34210538). Motor dysfunction is a prominent feature, although it does not overtly manifest as ataxia. Nevertheless, this gene has been added to the 'Ataxia and cerebellar anomalies - narrow panel' due to the presence of cerebellar hypoplasia in affected individuals, and because the early age of onset aligns more closely with that panel.
Hereditary ataxia with onset in adulthood v8.10 EXOSC8 Arina Puzriakova Gene: exosc8 has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v8.9 EXOSC8 Arina Puzriakova Publications for gene: EXOSC8 were set to
Hereditary ataxia with onset in adulthood v8.8 EXOSC8 Arina Puzriakova Tag Q3_25_demote_red tag was added to gene: EXOSC8.
Hereditary ataxia with onset in adulthood v8.8 EXOSC8 Arina Puzriakova Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia type 1C to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Hereditary ataxia with onset in adulthood v1.150 EXOSC8 Louise Daugherty Mode of inheritance for gene: EXOSC8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.149 EXOSC8 Louise Daugherty Classified gene: EXOSC8 as Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.149 EXOSC8 Louise Daugherty Gene: exosc8 has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v1.9 EXOSC8 Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 1C for gene: EXOSC8
Hereditary ataxia with onset in adulthood v1.8 EXOSC8 Louise Daugherty reviewed gene: EXOSC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 EXOSC8 Tracy Lester reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 1C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.2 EXOSC8 Louise Daugherty Source NHS GMS was added to EXOSC8.
Hereditary ataxia with onset in adulthood v1.1 EXOSC8 Louise Daugherty gene: EXOSC8 was added
gene: EXOSC8 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: EXOSC8 was set to