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| Arthrogryposis v10.27 | PSMF1 |
Ida Ertmanska changed review comment from: PMID: 41986367 Magrinelli et al., 2026 Report of 18 unrelated families of European, Asian and African ancestry with 25 affected subjects harbouring biallelic PSMF1 missense and loss-of-function variants. Consanguinity was reported in 11/18 families. Probands’ parents were healthy. Patient phenotypes ranged from early-onset PD to perinatal lethality with neurological manifestations. In 8 families, 10 individuals presented with early-onset Parkinson disease. 5 individuals had disease onset at age 18 years or under, 4 others were aged 19-29 years, and 1 individual had disease onset at 48 years. These individuals harboured homozygous missense variants, or comp het homozygous + LoF. In 4 families the presentation consisted of miscellaneous movement disorders, encompassing parkinsonism, moderate-to-severe pyramidal tract signs, ataxia or a combination thereof, with mild-to-moderate intellectual disability, epilepsy and cognitive decline. Cerebellar malformations/atrophy were noted on MRI in 4 individuals. Age of onset was under 12 years of age for this subgroup. All 4 probands were homozygous for splice variants in PSMF1. Finally, in 4 families, the core phenotype was arthrogryposis, with poor feeding, respiratory insufficiency, corpus callosum malformations and early lethality. Biallelic LoF variants are thought to cause this most severe presentation. Functional evidence: Drosophila and mouse models showed age-dependent motor impairment, brain-wide mitochondrial membrane depolarization and dopaminergic neurodegeneration in aged flies, and diffuse gliosis in mice. PSMF1 is associated with Parkinson disease 27, autosomal recessive early-onset, OMIM:621693 (OMIM accessed 4th Nov 2026). Sources: Literature; to: PMID: 41986367 Magrinelli et al., 2026 Report of 18 unrelated families of European, Asian and African ancestry with 25 affected subjects harbouring biallelic PSMF1 missense and loss-of-function variants. Consanguinity was reported in 11/18 families. Probands’ parents were healthy. Patient phenotypes ranged from early-onset PD to perinatal lethality with neurological manifestations. In 8 families, 10 individuals presented with early-onset Parkinson disease. 5 individuals had disease onset at age 18 years or under, 4 others were aged 19-29 years, and 1 individual had disease onset at 48 years. These individuals harboured homozygous missense variants, or comp het homozygous + LoF. In 4 families the presentation consisted of miscellaneous movement disorders, encompassing parkinsonism, moderate-to-severe pyramidal tract signs, ataxia or a combination thereof, with mild-to-moderate intellectual disability, epilepsy and cognitive decline. Cerebellar malformations/atrophy were noted on MRI in 4 individuals. Age of onset was under 12 years of age for this subgroup. All 4 probands were homozygous for splice variants in PSMF1. Finally, in 4 families, the core phenotype was arthrogryposis, with poor feeding, respiratory insufficiency, corpus callosum malformations and early lethality. Biallelic LoF variants are thought to cause this most severe presentation. Functional evidence: Drosophila and mouse models showed age-dependent motor impairment, brain-wide mitochondrial membrane depolarization and dopaminergic neurodegeneration in aged flies, and diffuse gliosis in mice. PSMF1 is associated with Parkinson disease 27, autosomal recessive early-onset, OMIM:621693, AR Arthrogryposis multiplex congenita 8, neurogenic type, OMIM:621695, and Neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities, OMIM:621694, and AR (OMIM accessed 4th Nov 2026). Sources: Literature |
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| Arthrogryposis v10.27 | PSMF1 | Ida Ertmanska Phenotypes for gene: PSMF1 were changed from Parkinson disease 27, autosomal recessive early-onset, OMIM:621693; young-onset Parkinson disease, MONDO:0017279; arthrogryposis, MONDO:0008779 to Arthrogryposis multiplex congenita 8, neurogenic type, OMIM:621695 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v10.26 | PSMF1 | Ida Ertmanska edited their review of gene: PSMF1: Changed phenotypes to: Arthrogryposis multiplex congenita 8, neurogenic type, OMIM:621695 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v10.26 | PSMF1 | Ida Ertmanska Classified gene: PSMF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v10.26 | PSMF1 | Ida Ertmanska Added comment: Comment on list classification: There are 6 individuals from 4 unrelated families reported in literature with biallelic PSMF1 variants (predicted LoF) and arthrogryposis multiplex congenita. Hence, this gene can be promoted to Green on Arthrogryposis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v10.26 | PSMF1 | Ida Ertmanska Gene: psmf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v10.25 | PSMF1 |
Ida Ertmanska changed review comment from: PMID: 41986367 Magrinelli et al., 2026 Report of 18 unrelated families of European, Asian and African ancestry with 25 affected subjects harbouring biallelic PSMF1 missense and loss-of-function variants. Consanguinity was reported in 11/18 families. Probands’ parents were healthy. Patient phenotypes ranged from early-onset PD to perinatal lethality with neurological manifestations. In 8 families, individuals presented with early-onset Parkinson disease. 5 probands had disease onset at age 18 years or under, 4 others were aged 19-29 years, and 1 individual had disease onset at 48 years. These individuals harboured homozygous missense variants, or comp het homozygous + LoF. In 4 families the presentation consisted of miscellaneous movement disorders, encompassing parkinsonism, moderate-to-severe pyramidal tract signs, ataxia or a combination thereof, with mild-to-moderate intellectual disability, epilepsy and cognitive decline. Cerebellar malformations/atrophy were noted on MRI in 4 individuals. Age of onset was under 12 years of age for this subgroup. All 4 probands were homozygous for splice variants in PSMF1. Finally, in 4 families, the core phenotype was arthrogryposis, with poor feeding, respiratory insufficiency, corpus callosum malformations and early lethality. Biallelic LoF variants are thought to cause this most severe presentation. Functional evidence: Drosophila and mouse models showed age-dependent motor impairment, brain-wide mitochondrial membrane depolarization and dopaminergic neurodegeneration in aged flies, and diffuse gliosis in mice. PSMF1 is associated with Parkinson disease 27, autosomal recessive early-onset, OMIM:621693 (OMIM accessed 4th Nov 2026). Sources: Literature; to: PMID: 41986367 Magrinelli et al., 2026 Report of 18 unrelated families of European, Asian and African ancestry with 25 affected subjects harbouring biallelic PSMF1 missense and loss-of-function variants. Consanguinity was reported in 11/18 families. Probands’ parents were healthy. Patient phenotypes ranged from early-onset PD to perinatal lethality with neurological manifestations. In 8 families, 10 individuals presented with early-onset Parkinson disease. 5 individuals had disease onset at age 18 years or under, 4 others were aged 19-29 years, and 1 individual had disease onset at 48 years. These individuals harboured homozygous missense variants, or comp het homozygous + LoF. In 4 families the presentation consisted of miscellaneous movement disorders, encompassing parkinsonism, moderate-to-severe pyramidal tract signs, ataxia or a combination thereof, with mild-to-moderate intellectual disability, epilepsy and cognitive decline. Cerebellar malformations/atrophy were noted on MRI in 4 individuals. Age of onset was under 12 years of age for this subgroup. All 4 probands were homozygous for splice variants in PSMF1. Finally, in 4 families, the core phenotype was arthrogryposis, with poor feeding, respiratory insufficiency, corpus callosum malformations and early lethality. Biallelic LoF variants are thought to cause this most severe presentation. Functional evidence: Drosophila and mouse models showed age-dependent motor impairment, brain-wide mitochondrial membrane depolarization and dopaminergic neurodegeneration in aged flies, and diffuse gliosis in mice. PSMF1 is associated with Parkinson disease 27, autosomal recessive early-onset, OMIM:621693 (OMIM accessed 4th Nov 2026). Sources: Literature |
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| Arthrogryposis v10.25 | PSMF1 |
Ida Ertmanska gene: PSMF1 was added gene: PSMF1 was added to Arthrogryposis. Sources: Literature Q4_26_promote_green tags were added to gene: PSMF1. Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMF1 were set to 41986367 Phenotypes for gene: PSMF1 were set to Parkinson disease 27, autosomal recessive early-onset, OMIM:621693; young-onset Parkinson disease, MONDO:0017279; arthrogryposis, MONDO:0008779 Review for gene: PSMF1 was set to GREEN Added comment: PMID: 41986367 Magrinelli et al., 2026 Report of 18 unrelated families of European, Asian and African ancestry with 25 affected subjects harbouring biallelic PSMF1 missense and loss-of-function variants. Consanguinity was reported in 11/18 families. Probands’ parents were healthy. Patient phenotypes ranged from early-onset PD to perinatal lethality with neurological manifestations. In 8 families, individuals presented with early-onset Parkinson disease. 5 probands had disease onset at age 18 years or under, 4 others were aged 19-29 years, and 1 individual had disease onset at 48 years. These individuals harboured homozygous missense variants, or comp het homozygous + LoF. In 4 families the presentation consisted of miscellaneous movement disorders, encompassing parkinsonism, moderate-to-severe pyramidal tract signs, ataxia or a combination thereof, with mild-to-moderate intellectual disability, epilepsy and cognitive decline. Cerebellar malformations/atrophy were noted on MRI in 4 individuals. Age of onset was under 12 years of age for this subgroup. All 4 probands were homozygous for splice variants in PSMF1. Finally, in 4 families, the core phenotype was arthrogryposis, with poor feeding, respiratory insufficiency, corpus callosum malformations and early lethality. Biallelic LoF variants are thought to cause this most severe presentation. Functional evidence: Drosophila and mouse models showed age-dependent motor impairment, brain-wide mitochondrial membrane depolarization and dopaminergic neurodegeneration in aged flies, and diffuse gliosis in mice. PSMF1 is associated with Parkinson disease 27, autosomal recessive early-onset, OMIM:621693 (OMIM accessed 4th Nov 2026). Sources: Literature |
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