Hereditary ataxia - adult onsetGene: MTPAP
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.
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 time
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
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
Gene: mtpap has been classified as Amber List (Moderate Evidence).
Added phenotypes Autosomal recessive spastic ataxia 4, 613672 for gene: MTPAP
Source NHS GMS was added to MTPAP.
Source Wessex and West Midlands GLH was added to MTPAP.
Louise Daugherty: Comment on phenotypes: Implica
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,