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  3. ITPA
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Cataract

Gene: ITPA

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

5 families reported, 2 had cataracts as part of the phenotype.
Created: 10 Jul 2020, 6:51 a.m. | Last Modified: 10 Jul 2020, 6:51 a.m.
Panel Version: 0.218

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 35, MIM# 616647

Publications

Created: 10 Jul 2020, 6:51 a.m.
Last Modified: 10 Jul 2020, 6:51 a.m.
Panel version: 0.218

Details

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

History Filter Activity

10 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itpa has been classified as Amber List (Moderate Evidence).

10 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITPA were set to

10 Jul 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ITPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

10 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itpa has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITPA was added gene: ITPA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ITPA was set to Unknown