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Hereditary neuropathy or pain disorder v7.27 PNPT1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype last accessed on 27 October 2025.
Hereditary neuropathy or pain disorder v7.27 PNPT1 Achchuthan Shanmugasundram Phenotypes for gene: PNPT1 were changed from Spinocerebellar ataxia 25, OMIM:608703 to Spinocerebellar ataxia 25, OMIM:608703; spinocerebellar ataxia type 25, MONDO:0012103
Hereditary neuropathy or pain disorder v7.26 PNPT1 Achchuthan Shanmugasundram Publications for gene: PNPT1 were set to 14705117; 35411967
Hereditary neuropathy or pain disorder v7.25 PNPT1 Achchuthan Shanmugasundram edited their review of gene: PNPT1: Changed phenotypes to: Spinocerebellar ataxia 25, OMIM:608703, spinocerebellar ataxia type 25, MONDO:0012103
Hereditary neuropathy or pain disorder v7.25 PNPT1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three additional families reported with Spinocerebellar Ataxia 25 phenotype including polyneuropathy and are identified with monoallellic PNPT1 variants. Although there was incomplete penetrance observed in previously reported cases, the evidence from these recently reported families suggests that this gene can remain green on this panel.; to: Comment on list classification: There are three additional families reported with Spinocerebellar Ataxia 25 including polyneuropathy as part of the phenotype, and they are identified with monoallellic PNPT1 variants. Although there was incomplete penetrance observed in previously reported cases, the evidence from these recently reported families suggests that this gene can remain green on this panel.
Hereditary neuropathy or pain disorder v7.25 PNPT1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three additional families reported with Spinocerebellar Ataxia 25 phenotype including polyneuropathy and are identified with monoallellic PNPT1 variants. Although there was incomplete penetrance observed in previously reported cases, the evidence from these recently reported families suggests that this gene can remain green on this panel..; to: Comment on list classification: There are three additional families reported with Spinocerebellar Ataxia 25 phenotype including polyneuropathy and are identified with monoallellic PNPT1 variants. Although there was incomplete penetrance observed in previously reported cases, the evidence from these recently reported families suggests that this gene can remain green on this panel.
Hereditary neuropathy or pain disorder v7.25 PNPT1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three additional families reported with Spinocerebellar Ataxia 25 phenotype including polyneuropathy and are identified with monoallellic PNPT1 variants. Although there was incomplete penetrance observed in previously reported cases, all these recently families do not show any evidence of incompletely penetrance.; to: Comment on list classification: There are three additional families reported with Spinocerebellar Ataxia 25 phenotype including polyneuropathy and are identified with monoallellic PNPT1 variants. Although there was incomplete penetrance observed in previously reported cases, the evidence from these recently reported families suggests that this gene can remain green on this panel..
Hereditary neuropathy or pain disorder v7.25 PNPT1 Achchuthan Shanmugasundram Classified gene: PNPT1 as Green List (high evidence)
Hereditary neuropathy or pain disorder v7.25 PNPT1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three additional families reported with Spinocerebellar Ataxia 25 phenotype including polyneuropathy and are identified with monoallellic PNPT1 variants. Although there was incomplete penetrance observed in previously reported cases, all these recently families do not show any evidence of incompletely penetrance.
Hereditary neuropathy or pain disorder v7.25 PNPT1 Achchuthan Shanmugasundram Gene: pnpt1 has been classified as Green List (High Evidence).
Hereditary neuropathy or pain disorder v7.24 PNPT1 Achchuthan Shanmugasundram edited their review of gene: PNPT1: Added comment: There are additional cases reported recently:

PMID:39899068 (2025) reported a 1-year-8-month-old female proband of Brazilian descent with Spinocerebellar Ataxia 25 that presented with progressive ataxia, cerebellar atrophy, and sensory neuropathy. She was identified with a novel heterozygous truncating variant in PNPT1 (c.2068del), which she inherited from her father. Although the father was previously reported as asymptomatic, he was affected with axonal and demyelinating polyneuropathy but not ataxia upon detailed examination.

PMID:39924761 (2025) reported two unrelated families, where all individuals presented with sensory ataxic neuropathy (SAN), while some individuals developed cerebellar signs. Analysis of WGS variant data through the 100,000 Genomes Project identified two different heterozygous variants in these families. Family 1 underwent a 'quad' study and the previously reported c.2014‐3C>G variant segregated in all affected family members and was absent in all unaffected family members. Sanger sequencing confirmed segregation in two other individuals. c.2014‐3C>G is the same variant that was found in the 3-generation Australian family reported by PMID:35411967, where unaffected family members harboured the variant. A novel nonsense variant (c.2143C>T/ p.Arg715Ter) was found in both affected members of Family 2.; Changed publications to: 14705117, 35411967, 37935417, 39899068, 39924761
Hereditary neuropathy or pain disorder v6.148 PNPT1 Sarah Leigh Tag Q3_24_promote_green was removed from gene: PNPT1.
Tag Q3_24_NHS_review was removed from gene: PNPT1.
Hereditary neuropathy or pain disorder v6.148 PNPT1 Sarah Leigh reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v6.147 PNPT1 Sarah Leigh 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)
Hereditary neuropathy or pain disorder v6.131 PNPT1 Zornitza Stark reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v6.64 PNPT1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated cases reported with heterozygous PNPT1 variants and sensory neuropathy. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: There are four unrelated cases reported with heterozygous PNPT1 variants and sensory neuropathy. Hence, this gene can be promoted to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v6.64 PNPT1 Achchuthan Shanmugasundram changed review comment from: 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. All patients from the Australian family for whom information was available had an axonal sensory neuropathy with diminished or absent limb reflexes and decreased sensation. 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. He also had sensory neuropathy.

This gene has been associated with relevant phenotypes in OMIM (MIM #608703), which records sensory neuropathy/ axonal sensory neuropathy as clinical manifestations of the phenotype.; to: 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. All patients from the Australian family for whom information was available had an axonal sensory neuropathy with diminished or absent limb reflexes and decreased sensation. 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. He also had sensory neuropathy. 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 phenotype in OMIM (MIM #608703), which records sensory neuropathy/ axonal sensory neuropathy as clinical manifestations of the phenotype.
Hereditary neuropathy or pain disorder v6.63 PNPT1 Achchuthan Shanmugasundram edited their review of gene: PNPT1: Changed publications to: 14705117, 35411967, 37935417
Hereditary neuropathy or pain disorder v6.60 PNPT1 Achchuthan Shanmugasundram Classified gene: PNPT1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.60 PNPT1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases reported with heterozygous PNPT1 variants and sensory neuropathy. Hence, this gene can be promoted to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v6.60 PNPT1 Achchuthan Shanmugasundram Gene: pnpt1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.59 PNPT1 Achchuthan Shanmugasundram Phenotypes for gene: PNPT1 were changed from ataxia; peripheral neuropathy to Spinocerebellar ataxia 25, OMIM:608703
Hereditary neuropathy or pain disorder v6.58 PNPT1 Achchuthan Shanmugasundram Publications for gene: PNPT1 were set to 35411967: 14705117
Hereditary neuropathy or pain disorder v6.57 PNPT1 Achchuthan Shanmugasundram Mode of inheritance for gene: PNPT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v6.56 PNPT1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PNPT1.
Tag Q3_24_NHS_review tag was added to gene: PNPT1.
Hereditary neuropathy or pain disorder v6.56 PNPT1 Achchuthan Shanmugasundram reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14705117, 35411967; Phenotypes: Spinocerebellar ataxia 25, OMIM:608703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v5.19 PNPT1 Alexander Rossor gene: PNPT1 was added
gene: PNPT1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: PNPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PNPT1 were set to 35411967: 14705117
Phenotypes for gene: PNPT1 were set to ataxia; peripheral neuropathy
Penetrance for gene: PNPT1 were set to Complete
Review for gene: PNPT1 was set to GREEN
Added comment: Sources: Expert list