PNPT1

polyribonucleotide nucleotidyltransferase 1
OMIM: 610316, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green PNPT1 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 13 (MIM#614932) Deafness, autosomal recessive 70 (MIM#614934) Spinocerebellar ataxia 25, MIM# 608703
Green PNPT1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 13, MIM# 614932
Green PNPT1 in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 13 (MIM#614932) Deafness, autosomal recessive 70 (MIM#614934)
Green PNPT1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 13 (MIM#614932)
Green PNPT1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 13, MIM#614932 Deafness, autosomal recessive 70, MIM#614934
Green PNPT1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Combined oxidative phosphorylation deficiency 13, MIM#614932
Amber PNPT1 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.16 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Spinocerebellar ataxia 25, MIM# 608703