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Autoinflammatory Disorders v2.5 PTPN1 Zornitza Stark Phenotypes for gene: PTPN1 were changed from Autoinflammatory encephalopathy to Type 1 interferonopathy of childhood, MONDO:0957408, PTPN1-related
Autoinflammatory Disorders v2.4 PTPN1 Zornitza Stark Marked gene: PTPN1 as ready
Autoinflammatory Disorders v2.4 PTPN1 Zornitza Stark Gene: ptpn1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v2.4 PTPN1 Zornitza Stark Classified gene: PTPN1 as Green List (high evidence)
Autoinflammatory Disorders v2.4 PTPN1 Zornitza Stark Gene: ptpn1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v2.3 PTPN1 Zornitza Stark reviewed gene: PTPN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Type 1 interferonopathy of childhood, MONDO:0957408, PTPN1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v2.3 PTPN1 Peter McNaughton gene: PTPN1 was added
gene: PTPN1 was added to Autoinflammatory Disorders. Sources: Literature
Mode of inheritance for gene: PTPN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN1 were set to PMID: 39986310
Phenotypes for gene: PTPN1 were set to Autoinflammatory encephalopathy
Penetrance for gene: PTPN1 were set to Incomplete
Review for gene: PTPN1 was set to GREEN
Added comment: 12 patients from 11 families with phenotype characterised by subacute loss of skills following initially normal development, spastic dystonia, bulbar involvement, preserved head circumference, and an absence of seizures. The observation of enhanced type 1 IFN signalling in patient blood and CSF, and of increased levels of CSF neopterin suggests that PTPN1 haploinsufficiency can be classified as a novel type 1 interferonopathy. Features apparently distinguishing PTP1B-related encephalopathy from Aicardi-Goutières syndrome are a later age at onset (nine of 12 cases in cohort presenting beyond 18 months of age), notable bulbar involvement manifesting as difficulties with swallowing and expressive speech, and cerebral atrophy as the predominant neuroradiological sign.
Sources: Literature