PNPT1:Ensemblv90

polyribonucleotide nucleotidyltransferase 1
OMIM: 610316, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green PNPT1 in Mendeliome Version 1.3802	3 reviews	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 1.309 Component of the following Super Panels: Progressive Neurological Conditions	4 reviews	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 0.1299 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	3 reviews	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 0.578	1 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 1.304	2 reviews	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 1.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Combined oxidative phosphorylation deficiency 13, MIM#614932
Green PNPT1 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.62 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	5 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 25, MIM# 608703
Green PNPT1 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.162 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	5 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes Spinocerebellar ataxia 25, MIM# 608703
Green PNPT1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 13, MIM# 614932
Green PNPT1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 13 (MIM#614932)
Green PNPT1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 13, MIM#614932 Deafness, autosomal recessive 70, MIM#614934
Green PNPT1 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 2.0	5 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Phenotypes Spinocerebellar ataxia 25, MIM# 608703
Green PNPT1 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	5 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes Spinocerebellar ataxia 25, MIM# 608703