Likely inborn error of metabolism - targeted testing not possible
Gene: MTPAPComment on mode of inheritance: Confirmed in OMIMCreated: 2 Aug 2019, 9:33 a.m. | Last Modified: 2 Aug 2019, 9:33 a.m.
Panel Version: 1.421
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
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 DISORDERSCreated: 23 Feb 2017, 5:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Spastic ataxia 4, autosomal recessive, 613672
Publications
Comment on phenotypes: minor format issue omittedCreated: 15 Feb 2017, 11:44 a.m.
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
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)
Source NHS GMS was added to MTPAP. Source London North GLH was added to MTPAP.
Sarah Leigh: Associated with relevant pheno
Added phenotypes Ataxia, spastic, 4, 613672 for gene: MTPAP
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)