Activity
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| Childhood onset hereditary spastic paraplegia v8.33 | EXOSC8 | Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: EXOSC8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.33 | EXOSC8 | Achchuthan Shanmugasundram reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.31 | EXOSC8 |
Achchuthan Shanmugasundram Source NHS GMS was added to EXOSC8. Source Expert Review Green was added to EXOSC8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Childhood onset hereditary spastic paraplegia v8.9 | EXOSC8 | Arina Puzriakova changed review comment from: Comment on list classification: This gene should be promoted to Green at the next GMS panel update on the basis that spasticity is a significant feature of the disorder associated with biallelic variant in this gene - at least 5 families have been reported (spasticity reported in 11/13 patients, affecting both upper and lower limbs except for one patient who had lower limbs spasticity).; to: Comment on list classification: This gene should be promoted to Green at the next GMS panel update on the basis that spasticity is a significant feature of the complex infantile-onset disorder associated with biallelic variant in this gene - at least 5 families have been reported (spasticity reported in 11/13 patients, affecting both upper and lower limbs except for one patient who had lower limbs spasticity). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.9 | EXOSC8 | Arina Puzriakova changed review comment from: Comment on list classification: Upgraded from Red to Amber but this gene should be promoted to Green at the next GMS panel update on the basis that cerebellar hypoplasia is a significant feature of the disorder associated with biallelic variant in this gene - at least 5 families have been reported.; to: Comment on list classification: This gene should be promoted to Green at the next GMS panel update on the basis that spasticity is a significant feature of the disorder associated with biallelic variant in this gene - at least 5 families have been reported (spasticity reported in 11/13 patients, affecting both upper and lower limbs except for one patient who had lower limbs spasticity). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.9 | EXOSC8 | Arina Puzriakova Entity copied from Ataxia and cerebellar anomalies - narrow panel v8.21 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v8.9 | EXOSC8 |
Arina Puzriakova gene: EXOSC8 was added gene: EXOSC8 was added to Childhood onset hereditary spastic paraplegia. Sources: Expert Review Amber Q3_25_promote_green tags were added to gene: EXOSC8. Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC8 were set to 24989451; 38017281; 34210538 Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, OMIM:616081 |
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