Activity
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| Ataxia and cerebellar anomalies - narrow panel v7.18 | PNPT1 | Arina Puzriakova Tag Q3_24_promote_green was removed from gene: PNPT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v7.18 | PNPT1 | Arina Puzriakova reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v7.17 | PNPT1 |
Arina Puzriakova Source NHS GMS was added to PNPT1. Source Expert Review Green was added to PNPT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v7.3 | PNPT1 | Achchuthan Shanmugasundram Classified gene: PNPT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v7.3 | PNPT1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated cases with spinocerebellar ataxia 25 (MIM # 608703), although there is evidence of incomplete penetrance in one of them. There is also functional studies available in support of the association. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v7.3 | PNPT1 | Achchuthan Shanmugasundram Gene: pnpt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v7.2 | PNPT1 |
Achchuthan Shanmugasundram gene: PNPT1 was added gene: PNPT1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Q3_24_promote_green tags were added to gene: PNPT1. Mode of inheritance for gene: PNPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PNPT1 were set to 14705117; 35411967; 37935417 Phenotypes for gene: PNPT1 were set to Spinocerebellar ataxia 25, OMIM:608703 Review for gene: PNPT1 was set to GREEN Added comment: PMID:14705117 reported a large family from Southeastern France with spinocerebellar ataxia with sensory involvement. Age at onset ranged from 17 months to 39 years, although most of those affected had onset in childhood. Cerebellar ataxia was always present and many patients had peripheral sensory neuropathy. PMID:35411967 reported the identification of heterozygous splice site variants in PNPT1 in the above reported family from Southeastern France and from a 3-generation Australian family with spinocerebellar ataxia and sensory neuropathy reported in this study. There was evidence of incomplete penetrance in the Australian family, as two carriers in this family had sensory neuropathy without ataxia or cerebellar atrophy in their thirties. A 40-year-old French patient was also reported with heterozygous frameshift PNPT1 variant, who had onset of deafness shortly after birth and onset of gait ataxia at 23 years of age. This patient inherited the variant from an asymptomatic 80+ years old father. PMID:37935417 reported the identification of a novel PNPT1 variant in a 3-year-old child with spinocerebellar ataxia. The child had cerebellar atrophy and psychomotor delay. At a follow up at 6 years of age, the symptoms had worsened and also presented with axonal sensory neuropathy. Monoallelic variants in this gene have been associated with relevant phenotypes in OMIM (MIM #608703), but not in Gene2Phenotype. Sources: Literature |
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