Hereditary spastic paraplegia
Gene: MTPAP
Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019Created: 3 May 2019, 8:37 a.m.
2 entries on HGMD Pro
Crosby (2010, 20970105); variant proposed as cause of spastic paraplegia in Amish population as founder mutation.
p.N478D: Slowly progressive autosomal-recessive neurodegenerative condition, the key features of which
are cerebellar ataxia, spastic paraparesis, dysarthria, optic atrophy, learning difficulties.
Functional studies showed loss of polyadenylation of mitochondrial transcripts
Additional functional characterisation in Wilson (2014, 25008111)
Al-Shamsi (2016, 27391121)
Biparental, homozygous c.1468G > T (p.V490L). 2 sibs with developmental delay and regression at 8 months of age, central hypotonia, short stature, failure to thrive, cerebellar atrophy, absence-like episodes, and hip dislocation. Parents were heterozygous. no functional studies.Created: 27 Nov 2018, 11:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cerebellar ataxia; spastic paraparesis; dysarthria; optic atrophy; learning difficulties
Publications
Created: 7 Feb 2016, 6:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spastic ataxia
Gene: mtpap has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene MTPAP was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene MTPAP was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene MTPAP was changed to BIALLELIC, autosomal or pseudoautosomal
MTPAP was added to Hereditary spastic paraplegiapanel. Sources: UKGTN
MTPAP was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen