Optic neuropathy
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
1 review
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE, 613672
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- London North GLH
- Phenotypes
-
- SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE, 613672
- OMIM
- 613669
- Clinvar variants
- Variants in MTPAP
- Penetrance
- None
- 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
19 Mar 2019, Gel status: 1
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: MTPAP were changed from to SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE, 613672
19 Mar 2019, Gel status: 1
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: MTPAP was changed from to BIALLELIC, autosomal or pseudoautosomal
19 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: MTPAP was added gene: MTPAP was added to Optic neuropathy. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MTPAP was set to