Genomics England

PNPT1

polyribonucleotide nucleotidyltransferase 1

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932, Dystonia
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HEARING LOSS, RESPIRATORY CHAIN DISORDER 614932
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932, Combined oxidative phosphorylation defect type 13, MONDO:0013977
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932, Combined oxidative phosphorylation defect type 13, MONDO:0013977
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932, Deafness, autosomal recessive 70, OMIM:614934, Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932, Deafness, autosomal recessive 70, OMIM:614934, Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932, Deafness, autosomal recessive 70, OMIM:614934
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932, Deafness, autosomal recessive 70, OMIM:614934, Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932