MPV17

Panel	Reviews	Mode of inheritance	Details
Filter panels 21 panels
Green MPV17 in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.17	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Emory Genetics Laboratory Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 256810 cholestasis liver failure
Red MPV17 in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.85	review	Not set	Sources Emory Genetics Laboratory Phenotypes Dystonia
Amber MPV17 in Cholestasis Version 1.76 Signed off v.1.21 on 20 Aug 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 Tags for-review
Green MPV17 in Mitochondrial liver disease Version 1.4 Signed off v.1.2 on 17 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
Amber MPV17 in Pain syndromes Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literaure Review Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 Navajo neurohepatopathy Pain insensitivity
Red MPV17 in Paroxysmal central nervous system disorders Version 1.10 Signed off v.1.2 on 27 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 Navajo neurohepatopathy Pain insensitivity
Green MPV17 in Mitochondrial DNA maintenance disorder Version 1.3 Signed off v.1.2 on 17 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
Red MPV17 in Neurodegenerative disorders - adult onset Version 2.38 Signed off v.2.31 on 8 Oct 2020	review	Unknown	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Dystonia
Green MPV17 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.440	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 Mitochondrial DNA Depletion Syndrome
Green MPV17 in Inborn errors of metabolism Version 2.50 Signed off v.2.3 on 17 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial DNA Depletion Syndrome Disorders of mitochondrial DNA maintenance and integrity Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3
Green MPV17 in Possible mitochondrial disorder - nuclear genes Version 1.21 Signed off v.1.17 on 11 Nov 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
Red MPV17 in Fetal anomalies Version 1.178 Signed off v.1.92 on 21 Aug 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 6
Green MPV17 in DDG2P Version 2.18 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 6 256810
Green MPV17 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.381	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Expert Review Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Red MPV17 in Hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 2.146 Signed off v.2.5 on 13 Feb 2020	review	Not set	Sources Expert
Amber MPV17 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.717 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
Green MPV17 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 2.12 Signed off v.2.4 on 17 Feb 2020 Component of the following Super Panels: White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 Mitochondrial DNA Depletion Syndrome
Red MPV17 in Adult onset movement disorder Version 1.16 Signed off v.1.14 on 15 Oct 2020	review	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 Dystonia
Green MPV17 in Hereditary neuropathy NOT PMP22 copy number Version 1.19 Signed off v.1.2 on 27 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review London North GLH NHS GMS NHS GMS London North GLH Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Red MPV17 in Childhood onset dystonia or chorea or related movement disorder Version 1.72 Signed off v.1.58 on 6 Oct 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert Review Red London North GLH Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
Green MPV17 in Severe Paediatric Disorders Version 1.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, axonal, type 2EE, 618400 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810

MPV17

21 panels

Green MPV17 in Neonatal cholestasis

Sources

Phenotypes

Red MPV17 in Early onset dystonia

Sources

Phenotypes

Amber MPV17 in Cholestasis

Sources

Phenotypes

Tags

Green MPV17 in Mitochondrial liver disease

Sources

Phenotypes

Amber MPV17 in Pain syndromes

Sources

Phenotypes

Red MPV17 in Paroxysmal central nervous system disorders

Sources

Phenotypes

Green MPV17 in Mitochondrial DNA maintenance disorder

Sources

Phenotypes

Red MPV17 in Neurodegenerative disorders - adult onset

Sources

Phenotypes

Green MPV17 in Undiagnosed metabolic disorders

Sources

Phenotypes

Green MPV17 in Inborn errors of metabolism

Sources

Phenotypes

Green MPV17 in Possible mitochondrial disorder - nuclear genes

Sources

Phenotypes

Red MPV17 in Fetal anomalies

Sources

Phenotypes

Green MPV17 in DDG2P

Sources

Phenotypes

Green MPV17 in Hereditary neuropathy

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Phenotypes

Red MPV17 in Hearing loss

Sources

Amber MPV17 in Intellectual disability

Sources

Phenotypes

Green MPV17 in Mitochondrial disorders

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Phenotypes

Red MPV17 in Adult onset movement disorder

Sources

Phenotypes

Green MPV17 in Hereditary neuropathy NOT PMP22 copy number

Sources

Phenotypes

Red MPV17 in Childhood onset dystonia or chorea or related movement disorder

Sources

Phenotypes

Green MPV17 in Severe Paediatric Disorders

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Phenotypes