PTPN1

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

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber PTPN1 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.24 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	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 8.44 Latest signed off version: v8.0 (30 Apr 2025)	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 9.351 Latest signed off version: v9.0 (30 Apr 2025) 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_promote_green Q1_26_expert_review
Amber PTPN1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.20 Latest signed off version: v7.0 (30 Apr 2025)	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