Mitochondrial disorders
Gene: MTPAPEnsemblGeneIds (GRCh38): ENSG00000107951
EnsemblGeneIds (GRCh37): ENSG00000107951
OMIM: 613669, Gene2Phenotype
MTPAP is in 17 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed in OMIMCreated: 2 Aug 2019, 9:33 a.m. | Last Modified: 2 Aug 2019, 9:33 a.m.
Panel Version: 1.421
Sarah Leigh (Genomics England Curator)
Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in unrelated cases, and supportive functional studies.Created: 11 Jul 2019, 9:28 a.m. | Last Modified: 11 Jul 2019, 9:28 a.m.
Panel Version: 1.405
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Expert
- Phenotypes
-
- ?Spastic ataxia 4, autosomal recessive 613672
- OMIM
- 613669
- Clinvar variants
- Variants in MTPAP
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- COVID-19 research
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Childhood onset hereditary spastic paraplegia
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Hereditary spastic paraplegia
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Possible mitochondrial disorder - nuclear genes
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: MTPAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: MTPAP were changed from Ataxia, spastic, 4, 613672 to ?Spastic ataxia 4, autosomal recessive 613672
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: mtpap has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: MTPAP were set to 20970105; 25008111; 26319014
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: MTPAP were set to 20970105; 25008111
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: MTPAP were set to
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to MTPAP. Panel: Mitochondrial disorders
Added New Source
Ellen McDonagh (Genomics England Curator)MTPAP was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)MTPAP was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen