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  3. MTPAP
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Optic Atrophy

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

Natalie Tan (Victorian Clinical Genetics Services)

Red List (low evidence)

Single Amish family reported only.
Created: 19 Feb 2020, 10:25 p.m. | Last Modified: 19 Feb 2020, 10:25 p.m.
Panel Version: 0.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spastic ataxia 4, autosomal recessive 613672

Publications

Created: 19 Feb 2020, 10:25 p.m.
Last Modified: 19 Feb 2020, 10:25 p.m.
Panel version: 0.5

Details

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

History Filter Activity

19 Feb 2020, 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 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MTPAP were set to

19 Feb 2020, Gel status: 1

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

19 Feb 2020, 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).

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