Likely inborn error of metabolism
Gene: ITPA

ITPA (inosine triphosphatase)
EnsemblGeneIds (GRCh38): ENSG00000125877
EnsemblGeneIds (GRCh37): ENSG00000125877
OMIM: 147520, Gene2Phenotype
ITPA is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Non-pathogenic phenotype for MIM:613850. IPTA variants also cause autosomal recessive Epileptic encephalopathy (MIM:616647) (>3 unrelated cases).
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 35, 616647; [Inosine triphosphatase deficiency], 613850

Created: 23 Feb 2017, 5:14 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

London North GLH
NHS GMS
Expert Review Green

Phenotypes

Inosine triphosphatase deficiency (Disorders of purine metabolism)
Epileptic encephalopathy, early infantile, 35, 616647
[Inosine triphosphatase deficiency], 613850

OMIM

147520

Clinvar variants

Variants in ITPA

Penetrance

None

Publications

27604308

Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ITPA. Source London North GLH was added to ITPA.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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