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  3. PNPT1
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Callosome

Gene: PNPT1

Green List (high evidence)
PNPT1 (polyribonucleotide nucleotidyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000138035
EnsemblGeneIds (GRCh37): ENSG00000138035
OMIM: 610316, Gene2Phenotype
PNPT1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

In this recent review, thin corpus callosum reported in 5/17 affected individuals.
Created: 21 Feb 2020, 8:46 p.m. | Last Modified: 21 Feb 2020, 8:46 p.m.
Panel Version: 0.82

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 13 (MIM#614932)

Publications

Created: 21 Feb 2020, 8:46 p.m.
Last Modified: 21 Feb 2020, 8:46 p.m.
Panel version: 0.82

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 13 (MIM#614932)
OMIM
610316
Clinvar variants
Variants in PNPT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13 (MIM#614932) to Combined oxidative phosphorylation deficiency 13 (MIM#614932)

21 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pnpt1 has been classified as Green List (High Evidence).

21 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13 (MIM#614932) to Combined oxidative phosphorylation deficiency 13 (MIM#614932)

21 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13 (MIM#614932)

21 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PNPT1 were set to

21 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PNPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PNPT1 was added gene: PNPT1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PNPT1 was set to Unknown