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Intellectual disability syndromic and non-syndromic

Gene: MPV17

Green List (high evidence)

MPV17 (MPV17, mitochondrial inner membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 15 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Numerous families reported with this mitochondrial disorder - has encephalopathy features with DD/ID
Created: 5 Dec 2019, 1:27 a.m. | Last Modified: 5 Dec 2019, 1:27 a.m.
Panel Version: 0.438

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2EE, OMIM #618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810

Publications

Details

Mode of Inheritance
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
OMIM
137960
Clinvar variants
Variants in MPV17
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mpv17 has been classified as Green List (High Evidence).

5 Dec 2019, Gel status: 3

Removed Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from MPV17. Source Expert list was added to MPV17. Mode of inheritance for gene MPV17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPV17 were changed from to Charcot-Marie-Tooth disease, axonal, type 2EE, OMIM #618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810 Publications for gene MPV17 were changed from PMID: 22593919 to PMID: 22593919

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MPV17 was added gene: MPV17 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MPV17 was set to Unknown