Hereditary ataxia

Gene: MTPAP

Red List (low evidence)

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

3 reviews

emma baple (Genomics England Curator)

Comment when marking as ready: Single Amish founder mutation, further evidence required
Created: 11 Jul 2016, 8:14 p.m.

Damian Smedley (Genomics England Curator)

Comment on list classification: Evidence from expert reviewer and OMIM
Created: 4 Feb 2016, 2:14 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Good evidence in lit. Couple of families and functional evidence
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia, spastic, 4,

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

11 Jul 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).

11 Jul 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).

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 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

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MTPAP was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MTPAP was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN