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Gene: TPI1

Green List (high evidence)
TPI1 (triosephosphate isomerase 1)
EnsemblGeneIds (GRCh38): ENSG00000111669
EnsemblGeneIds (GRCh37): ENSG00000111669
OMIM: 190450, Gene2Phenotype
TPI1 is in 4 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

More than 10 unrelated families reported; bi-allelic (missense, nonsense, frameshift) variants; Common p.Glu104Asp variant in Northern European population.

Triosephosphate isomerase deficiency (TPID) is an autosomal recessive multisystem disorder characterised by early childhood onset congenital haemolytic anaemia, and progressive neuromuscular dysfunction. Many patients die from respiratory failure in childhood. The neurological features are variable, but usually includes lower motor neuron dysfunction with hypotonia, muscle weakness and atrophy, and hyporeflexia. Other features include intracellular accumulation of dihydroxyacetone phosphate (DHAP), particularly in red blood cells and increased susceptibility to infections.
Created: 8 Oct 2024, 5:49 a.m. | Last Modified: 8 Oct 2024, 5:49 a.m.
Panel Version: 1.390

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemolytic anemia due to triosephosphate isomerase deficiency MIM#615512

Publications

Created: 8 Oct 2024, 5:49 a.m.
Last Modified: 8 Oct 2024, 5:49 a.m.
Panel version: 1.390

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Haemolytic anaemia due to triosephosphate isomerase deficiency MIM#615512
OMIM
190450
Clinvar variants
Variants in TPI1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tpi1 has been classified as Green List (High Evidence).

11 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TPI1 were changed from Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3) to Haemolytic anaemia due to triosephosphate isomerase deficiency MIM#615512

11 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TPI1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TPI1 was added gene: TPI1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TPI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3)