MPV17

mitochondrial inner membrane protein MPV17
OMIM: 137960, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green MPV17 in Cholestasis Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810
Green MPV17 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400
Green MPV17 in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400
Green MPV17 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, axonal, type 2EE, OMIM #618400 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810
Red MPV17 in Dystonia and Chorea Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810
Green MPV17 in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Phenotypes HMSN Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400
Green MPV17 in Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810
Red MPV17 in Pain syndromes Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 Navajo neurohepatopathy Pain insensitivity
Green MPV17 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)
Green MPV17 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome, hepatic
Green MPV17 in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810
Red MPV17 in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Expert list Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810
Green MPV17 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810
Red MPV17 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810
Green MPV17 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Charcot-Marie-Tooth disease, axonal, type 2EE, MIM#618400 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810