This Panel is marked as Internal
Intellectual disability update Jan 2018
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
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P. At least one homozygous variant reported in 6 members of a large Amish family, phenotype includes speech delay and learning difficultiesCreated: 28 Feb 2018, 11:05 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
- Phenotypes
-
- ?Spastic ataxia 4, autosomal recessive 613672
- OMIM
- 613669
- Clinvar variants
- Variants in MTPAP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- COVID-19 research
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary ataxia
- Fetal anomalies
- Adult onset hereditary spastic paraplegia
- Childhood onset hereditary spastic paraplegia
History Filter Activity
28 Feb 2018, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
28 Feb 2018, Gel status: 2
Set publications
Sarah Leigh (Genomics England Curator)Publications for MTPAP were set to 20970105
28 Feb 2018, Gel status: 2
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for MTPAP were set to ?Spastic ataxia 4, autosomal recessive 613672
28 Feb 2018, Gel status: 2
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for MTPAP was changed from to BIALLELIC, autosomal or pseudoautosomal
18 Dec 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)MTPAP was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber
18 Dec 2017, Gel status: 2
Created
Ellen McDonagh (Genomics England Curator)MTPAP was created by Ellen McDonagh