PTPN1

protein tyrosine phosphatase, non-receptor type 1
OMIM: 176885, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber PTPN1 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 8.1 Latest signed off version: v8.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Encephalopathy, HP:0001298 dystonia, early-onset, and/or spastic paraplegia, MONDO:0859215 Tags Q1_26_promote_green Q1_26_expert_review
Amber PTPN1 in Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 9.1 Latest signed off version: v9.0 (6 May 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Encephalopathy, HP:0001298 dystonia, early-onset, and/or spastic paraplegia, MONDO:0859215 Tags Q1_26_promote_green Q1_26_expert_review
Amber PTPN1 in Intellectual disability Level 2: Developmental disorders Version 10.17 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Encephalopathy, HP:0001298 dystonia, early-onset, and/or spastic paraplegia, MONDO:0859215 Tags Q1_26_expert_review Q1_26_promote_green
Amber PTPN1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 8.3 Latest signed off version: v8.0 (6 May 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Encephalopathy, HP:0001298 dystonia, early-onset, and/or spastic paraplegia, MONDO:0859215 Tags Q1_26_promote_green Q1_26_expert_review
Amber PTPN1 in Autoinflammatory disorders Level 2: Immunology Version 3.9 Latest signed off version: v3.0 (6 May 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Encephalopathy, HP:0001298 dystonia, early-onset, and/or spastic paraplegia, MONDO:0859215 Tags Q1_26_promote_green Q1_26_expert_review