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Undiagnosed metabolic disorders

Gene: MTPAP

Green List (high evidence)

MTPAP (mitochondrial poly(A) polymerase)
EnsemblGeneIds (GRCh38): ENSG00000107951
EnsemblGeneIds (GRCh37): ENSG00000107951
OMIM: 613669, Gene2Phenotype
MTPAP is in 14 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
Created: 19 Aug 2019, 11:54 a.m. | Last Modified: 19 Aug 2019, 11:54 a.m.
Panel Version: 1.203
Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in unrelated cases, and supportive functional studies.
Created: 19 Aug 2019, 11:51 a.m. | Last Modified: 19 Aug 2019, 11:51 a.m.
Panel Version: 1.201

Louise Daugherty (NIHR BioResource - Rare Diseases Study (NIHRBR-RD), University of Cambridge & NHS Blood and Transplant)

gene: MTPAP review by Louise Daugherty

Decreased amount and activity of mitochondrial complexes I and IV noted in the clinical synopsis for Spastic ataxia 4. PMID:20970105 indicates a single large Amish family associating this gene to the disorder. PMID:26319014 (Oct 2015) gives structural evidence for the specific affect of the reported N478D variant which drastically reduces the length of poly(A) tails on mitochondrial mRNAs in patients with spastic ataxia 4. On Radboud MOVEMENT DISORDERS MENDELIOME/MCA MITOCHONDRIAL DISORDERS
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spastic ataxia 4, autosomal recessive, 613672

Publications

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: minor format issue omitted
Created: 15 Feb 2017, 11:44 a.m.

History Filter Activity

19 Aug 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MTPAP were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); ?Spastic ataxia 4, autosomal recessive, 613672 to ?Spastic ataxia 4, autosomal recessive, 613672

19 Aug 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MTPAP were set to 27604308

19 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: mtpap has been classified as Green List (High Evidence).

27 Feb 2017, Gel status: 2

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

24 Feb 2017, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

MTPAP was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber MTPAP was added to Undiagnosed metabolic disorderspanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene MTPAP was set to BIALLELIC, autosomal or pseudoautosomal

15 Feb 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MTPAP were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)

15 Feb 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MTPAP were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

MTPAP was added to Undiagnosed metabolic disorderspanel. Sources: Literature

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

MTPAP was created by sleigh