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Mendeliome

Gene: MTPAP

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families reported, functional data. However, note that the 6 individuals with spastic ataxia all had same founder variant and were traced as distantly related (Amish community). Two additional families reported with a much more severe phenotype of lethal encephalopathy.

These are likely to represent a continuum of severity associated with a mitochondrial disorder.
Created: 30 Nov 2021, 4:42 a.m. | Last Modified: 30 Nov 2021, 4:42 a.m.
Panel Version: 0.9970

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic ataxia 4, autosomal recessive 613672; Lethal encephalopathy

Publications

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A homozygous variant identified in 6 affected members with onset in early childhood of a large consanguineous family of Old Order Amish origin, and supporting functional analyses.
Created: 17 Apr 2020, 12:37 a.m. | Last Modified: 17 Apr 2020, 12:37 a.m.
Panel Version: 0.143

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic ataxia 4, autosomal recessive MIM#613672

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic ataxia 4, autosomal recessive 613672
  • Lethal encephalopathy
Tags
founder
OMIM
613669
Clinvar variants
Variants in MTPAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: MTPAP.

30 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MTPAP were changed from to Spastic ataxia 4, autosomal recessive 613672; Lethal encephalopathy

30 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MTPAP were set to

30 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTPAP was added gene: MTPAP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MTPAP was set to Unknown