Hereditary spastic paraplegia

Gene: MTPAP

Amber List (moderate evidence)

MTPAP (mitochondrial poly(A) polymerase)
EnsemblGeneIds (GRCh38): ENSG00000107951
EnsemblGeneIds (GRCh37): ENSG00000107951
OMIM: 613669, Gene2Phenotype
MTPAP is in 17 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 2019
Created: 3 May 2019, 8:37 a.m.

Chris Buxton (North Bristol NHS Trust)

I don't know

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

emma baple (Genomics England Curator)

Red List (low evidence)

Created: 7 Feb 2016, 6:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spastic ataxia

History Filter Activity

2 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: mtpap has been classified as Amber List (Moderate Evidence).

9 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MTPAP was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MTPAP was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MTPAP was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MTPAP was added to Hereditary spastic paraplegiapanel. Sources: UKGTN

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MTPAP was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen