Ataxia - paediatric
Gene: MTPAPEnsemblGeneIds (GRCh38): ENSG00000107951
EnsemblGeneIds (GRCh37): ENSG00000107951
OMIM: 613669, Gene2Phenotype
MTPAP is in 7 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three families reported, functional data. However, note that the 6 individuals with spastic ataxia all had same founder variant and were traced as distantly related (Amish community). Two additional families reported with a much more severe phenotype of lethal encephalopathy.
These are likely to represent a continuum of severity associated with a mitochondrial disorder.Created: 30 Nov 2021, 4:42 a.m. | Last Modified: 30 Nov 2021, 4:42 a.m.
Panel Version: 0.9970
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 4, autosomal recessive 613672; Lethal encephalopathy
Publications
Bryony Thompson (Royal Melbourne Hospital)
A homozygous variant identified in 6 affected members with onset in early childhood of a large consanguineous family of Old Order Amish origin, and supporting functional analyses.Created: 17 Apr 2020, 12:37 a.m. | Last Modified: 17 Apr 2020, 12:37 a.m.
Panel Version: 0.143
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 4, autosomal recessive MIM#613672
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Amber
- Royal Melbourne Hospital
- Victorian Clinical Genetics Services
- Phenotypes
-
- ?Ataxia, spastic, 4,
- Autosomal recessive spastic ataxia 4, 613672
- OMIM
- 613669
- Clinvar variants
- Variants in MTPAP
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mtpap has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MTPAP was added gene: MTPAP was added to Ataxia - paediatric_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTPAP were set to 20970105; 26319014; 25008111 Phenotypes for gene: MTPAP were set to ?Ataxia, spastic, 4,; Autosomal recessive spastic ataxia 4, 613672