PSMF1

proteasome inhibitor subunit 1
Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber PSMF1 in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.47 Latest signed off version: v9.22 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Parkinson disease 27, autosomal recessive early-onset, OMIM:621693 young-onset Parkinson disease, MONDO:0017279 Neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities, OMIM:621694 Tags Q4_26_promote_green
Amber PSMF1 in Arthrogryposis Level 2: Neurology Version 10.29 Latest signed off version: v10.16 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Arthrogryposis multiplex congenita 8, neurogenic type, OMIM:621695 Tags Q4_26_promote_green
Amber PSMF1 in Neurodegenerative disorders, adult onset Level 2: Neurology Version 9.30 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Parkinson disease 27, autosomal recessive early-onset, OMIM:621693 young-onset Parkinson disease, MONDO:0017279 Tags Q4_26_promote_green
Green PSMF1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.31 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related Tags gene-checked
Amber PSMF1 in Intellectual disability Level 2: Developmental disorders Version 11.86 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities, OMIM:621694 Arthrogryposis multiplex congenita 8, neurogenic type, OMIM:621695 Tags Q4_26_promote_green