PTPMT1

protein tyrosine phosphatase, mitochondrial 1
OMIM: 609538, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber PTPMT1 in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.32 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 Neurodevelopmental disorder with ataxia and brain abnormalities, OMIM:621199 Tags watchlist
Amber PTPMT1 in Severe microcephaly Level 2: Neurology Version 9.26 Latest signed off version: v9.13 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with ataxia and brain abnormalities, OMIM:621199 Tags watchlist
Amber PTPMT1 in Likely inborn error of metabolism Level 2: Metabolic Version 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Neurodevelopmental disorder with ataxia and brain abnormalities, OMIM:621199 Tags Q2_26_expert_review Q2_26_promote_green
Amber PTPMT1 in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.23 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with ataxia and brain abnormalities, OMIM:621199 Tags Q2_26_promote_green Q2_26_expert_review
Amber PTPMT1 in Early onset or syndromic epilepsy Level 2: Neurology Version 9.74 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with ataxia and brain abnormalities, OMIM:621199 Tags watchlist
Amber PTPMT1 in Intellectual disability Level 2: Developmental disorders Version 11.28 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 Neurodevelopmental disorder with ataxia and brain abnormalities, OMIM:621199 Tags watchlist
Amber PTPMT1 in Mitochondrial disorders Level 2: Mitochondrial Version 10.23 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with ataxia and brain abnormalities, OMIM:621199 Tags Q2_26_promote_green Q2_26_NHS_review Q2_26_expert_review