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Intellectual disability

Gene: ITPA

Green List (high evidence)

ITPA (inosine triphosphatase)
EnsemblGeneIds (GRCh38): ENSG00000125877
EnsemblGeneIds (GRCh37): ENSG00000125877
OMIM: 147520, Gene2Phenotype
ITPA is in 7 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to green. ITPA is associated with a phenotype in OMIM but not in Gene2Phenotype. There are 5 unrelated families (PMID: 26224535, 30816001) with affected individuals who have global developmental delay with different variants in ITPA. PMID: 19498443 describes a knockout mouse model of Itpa, which had growth retardation. Therefore, there is enough evidence to promote this gene to green status.
Created: 27 Jun 2019, 12:10 p.m. | Last Modified: 27 Jun 2019, 12:10 p.m.
Panel Version: 2.893

Zornitza Stark (Australian Genomics)

Green List (high evidence)

7 individuals from 4 families reported in the literature with bi-allelic variants in this gene, ID is part of the phenotype.
Created: 22 Jun 2018, 11:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 35

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 35, 616647
OMIM
147520
Clinvar variants
Variants in ITPA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

27 Jun 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ITPA were set to 26224535; 30816001

27 Jun 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ITPA were set to 26224535; 30816001

27 Jun 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ITPA were set to 26224535; 30816001

27 Jun 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ITPA were set to 26224535

26 Jun 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ITPA were changed from Epileptic encephalopathy, early infantile, 35 to Epileptic encephalopathy, early infantile, 35, 616647

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to ITPA.

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

ITPA was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

ITPA was created by Zornitza Stark