TEST Undiagnosed metabolic disorders
Gene: PNPT1

PNPT1 (polyribonucleotide nucleotidyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000138035
EnsemblGeneIds (GRCh37): ENSG00000138035
OMIM: 610316, Gene2Phenotype
PNPT1 is in 17 panels

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Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

OMIM

610316

Clinvar variants

Variants in PNPT1

Penetrance

None

Publications

27604308

Panels with this gene

Monogenic hearing loss
Childhood onset dystonia, chorea or related movement disorder
Undiagnosed metabolic disorders
Adult onset neurodegenerative disorder
Ataxia and cerebellar anomalies - narrow panel
Mitochondrial disorders
Likely inborn error of metabolism
Hereditary ataxia with onset in adulthood
Early onset dystonia
Intellectual disability
Possible mitochondrial disorder - nuclear genes
Hereditary neuropathy or pain disorder
Early onset or syndromic epilepsy
Adult onset dystonia, chorea or related movement disorder
Fetal anomalies
DDG2P
White matter disorders and cerebral calcification - narrow panel

History Filter Activity

20 Aug 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: PNPT1 was added gene: PNPT1 was added to TEST Undiagnosed metabolic disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPT1 were set to 27604308

TEST Undiagnosed metabolic disorders Gene: PNPT1

0 reviews

Details

History Filter Activity

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

TEST Undiagnosed metabolic disorders
Gene: PNPT1