Adult onset neurodegenerative disorder
Gene: MTPAPEnsemblGeneIds (GRCh38): ENSG00000107951
EnsemblGeneIds (GRCh37): ENSG00000107951
OMIM: 613669, Gene2Phenotype
MTPAP is in 17 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Onset in early childhood and small number of casesCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, spastic, 4,; Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Red
- Phenotypes
-
- Ataxia, spastic, 4,
- Ataxia, spastic, 4
- Spastic ataxia 4, autosomal recessive
- OMIM
- 613669
- Clinvar variants
- Variants in MTPAP
- Penetrance
- None
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- COVID-19 research
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Hereditary spastic paraplegia
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorders
- Likely inborn error of metabolism
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Optic neuropathy
- Adult onset hereditary spastic paraplegia
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MTPAP.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to MTPAP.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Ataxia, spastic, 4, for gene: MTPAP
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: MTPAP was added gene: MTPAP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTPAP were set to Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive