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  3. MTPAP
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Hereditary Spastic Paraplegia - paediatric

Gene: MTPAP

Red List (low evidence)
MTPAP (mitochondrial poly(A) polymerase)
EnsemblGeneIds (GRCh38): ENSG00000107951
EnsemblGeneIds (GRCh37): ENSG00000107951
OMIM: 613669, Gene2Phenotype
MTPAP is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single Old Order Amish family reported with spastic paraparesis. It does not appear to be a prominent feature of conditions associated with this gene.
Created: 19 Apr 2020, 11:19 a.m. | Last Modified: 19 Apr 2020, 11:19 a.m.
Panel Version: 0.74

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic ataxia 4, autosomal recessive MIM#613672

Publications

Created: 19 Apr 2020, 11:19 a.m.
Last Modified: 19 Apr 2020, 11:19 a.m.
Panel version: 0.74

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • ?Spastic ataxia 4, autosomal recessive, 613672
  • Ataxia, spastic, 4
  • Spastic ataxia 4, autosomal recessive
OMIM
613669
Clinvar variants
Variants in MTPAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mtpap has been classified as Red List (Low Evidence).

19 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mtpap has been classified as Red List (Low Evidence).

31 Dec 2019, Gel status: 2

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MTPAP was added gene: MTPAP was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTPAP were set to 27391121; 20970105 Phenotypes for gene: MTPAP were set to ?Spastic ataxia 4, autosomal recessive, 613672; Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive