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  3. MTPAP
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Likely inborn error of metabolism

Gene: MTPAP

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

5 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in OMIM
Created: 2 Aug 2019, 9:33 a.m. | Last Modified: 2 Aug 2019, 9:33 a.m.
Panel Version: 1.421
Created: 2 Aug 2019, 9:33 a.m.
Last Modified: 2 Aug 2019, 9:33 a.m.
Panel version: Imported from Mitochondrial disorders panel version 1.421

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: 1.188
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: 11 Jul 2019, 9:28 a.m. | Last Modified: 11 Jul 2019, 9:28 a.m.
Panel Version: 1.405
Created: 11 Jul 2019, 9:28 a.m.
Last Modified: 11 Jul 2019, 9:28 a.m.
Panel version: Imported from Mitochondrial disorders panel version 1.405

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

Created: 23 Feb 2017, 5:14 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Louise Daugherty (Genomics England Curator)

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

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.287

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:32 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

History Filter Activity

19 Aug 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

6 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to MTPAP. Added phenotypes ?Spastic ataxia 4, autosomal recessive 613672 for gene: MTPAP Publications for gene MTPAP were changed from 27604308 to 27959697; 26319014; 25008111; 20970105; 27391121 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MTPAP. Source London North GLH was added to MTPAP.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Ataxia, spastic, 4, 613672 for gene: MTPAP

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MTPAP was added gene: MTPAP was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTPAP were set to 27604308 Phenotypes for gene: MTPAP were set to ?Spastic ataxia 4, autosomal recessive, 613672; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)