Hereditary ataxia
Gene: MTPAPEnsemblGeneIds (GRCh38): ENSG00000107951
EnsemblGeneIds (GRCh37): ENSG00000107951
OMIM: 613669, Gene2Phenotype
MTPAP is in 17 panels
3 reviews
emma baple (Genomics England Curator)
Comment when marking as ready: Single Amish founder mutation, further evidence requiredCreated: 11 Jul 2016, 8:14 p.m.
Damian Smedley (Genomics England Curator)
Comment on list classification: Evidence from expert reviewer and OMIMCreated: 4 Feb 2016, 2:14 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Good evidence in lit. Couple of families and functional evidenceCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, spastic, 4,
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Ataxia, spastic, 4,
- OMIM
- 613669
- Clinvar variants
- Variants in MTPAP
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mitochondrial disorders
- Optic neuropathy
- Intellectual disability
- COVID-19 research
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MTPAP was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)MTPAP was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)MTPAP was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN