This Panel is marked as Deleted
Mitochondrial disorders Victorian Clinical Genetics Services
Gene: MTPAP
MTPAP (mitochondrial poly(A) polymerase)
EnsemblGeneIds (GRCh38): ENSG00000107951
EnsemblGeneIds (GRCh37): ENSG00000107951
OMIM: 613669, Gene2Phenotype
MTPAP is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000107951
EnsemblGeneIds (GRCh37): ENSG00000107951
OMIM: 613669, Gene2Phenotype
MTPAP is in 17 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 613669
- Clinvar variants
- Variants in MTPAP
- Penetrance
- None
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- COVID-19 research
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Optic neuropathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- 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
- Likely inborn error of metabolism
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)MTPAP was added to Mitochondrial disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)MTPAP was created by Sarah Leigh