Genes in panel

Hereditary ataxia - adult onset

Gene: TTPA

Green List (high evidence)

TTPA (alpha tocopherol transfer protein)
EnsemblGeneIds (GRCh38): ENSG00000137561
EnsemblGeneIds (GRCh37): ENSG00000137561
OMIM: 600415, Gene2Phenotype
TTPA is in 12 panels

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

On Sheffield panel. 26 DM in HGMD.
Created: 27 Apr 2019, 7:39 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple cases and variants reported in literature
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ataxia with isolated vitamin E deficiency, 277460

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Hereditary ataxia v1.148
Phenotypes
  • Ataxia with isolated vitamin E deficiency
  • Ataxia with Vitamin E Deficiency
  • Ataxia with isolated vitamin E deficiency, 277460
OMIM
600415
Clinvar variants
Variants in TTPA
Penetrance
None
Panels with this gene

History Filter Activity

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GMS was added to TTPA.

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 for gene: TTPA

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TTPA.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to TTPA.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

15 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: TTPA was added gene: TTPA was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTPA were set to Ataxia with Vitamin E Deficiency; Ataxia with isolated vitamin E deficiency