Hereditary ataxia with onset in adulthood
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 from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Only two families reported in the literature each with a different homozygous variant. Good evidence for p.Asn478Asp (including functional). Much less available for p.Val490Leu - this variant was also identified in a second patient with an apparent additional diagnosis of NPC. Insufficient evidence for Green at this timeCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spastic ataxia 4, 613672
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Wessex and West Midlands GLH
- Hereditary ataxia v1.148
- Phenotypes
-
- Ataxia, spastic, 4,
- Autosomal recessive spastic ataxia 4, 613672
- OMIM
- 613669
- Clinvar variants
- Variants in MTPAP
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Likely inborn error of metabolism
- COVID-19 research
- Undiagnosed metabolic disorders
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Optic neuropathy
- Fetal anomalies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Hereditary spastic paraplegia
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Set mode of pathogenicity
Louise Daugherty (Genomics England Curator)Mode of pathogenicity for gene: MTPAP was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: mtpap has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Autosomal recessive spastic ataxia 4, 613672 for gene: MTPAP
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MTPAP.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to MTPAP.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: Implica
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: MTPAP was added gene: MTPAP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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,