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Mitochondrial disease

Gene: PTPMT1

Green List (high evidence)

PTPMT1 (protein tyrosine phosphatase, mitochondrial 1)
EnsemblGeneIds (GRCh38): ENSG00000110536
EnsemblGeneIds (GRCh37): ENSG00000110536
OMIM: 609538, Gene2Phenotype
PTPMT1 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

6 cases from 3 independent families with biallelic variants in PTPMT1 (a mitochondrial tyrosine phosphatase required for de novo cardiolipin biosynthesis). All cases presented with a complex, neonatal/infantile onset neurological and neurodevelopmental syndrome including developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy and bulbar dysfunction. Supporting knockout zebrafish and mouse models.
Sources: Literature
Created: 5 Feb 2025, 2:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
inborn mitochondrial metabolism disorder MONDO:0004069

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • inborn mitochondrial metabolism disorder MONDO:0004069
OMIM
609538
Clinvar variants
Variants in PTPMT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ptpmt1 has been classified as Green List (High Evidence).

5 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ptpmt1 has been classified as Green List (High Evidence).

5 Feb 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PTPMT1 was added gene: PTPMT1 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: PTPMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPMT1 were set to 39279645; 37672386 Phenotypes for gene: PTPMT1 were set to inborn mitochondrial metabolism disorder MONDO:0004069 Review for gene: PTPMT1 was set to GREEN