1. Panels
  2. BabyScreen+ newborn screening
  3. MPV17
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

Gene: MPV17

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810

Created: 6 Oct 2022, 12:45 a.m.
Last Modified: 6 Oct 2022, 12:45 a.m.
Panel version: 0.371

David Amor (Murdoch Children's Research Institute)

Red List (low evidence)

Gene-disease association: Strong. Mitochondrial DNA depletion syndrome-6 is an autosomal recessive disorder characterized by infantile onset of progressive liver failure, often leading to death in the first year of life. Those that survive develop progressive neurologic involvement, including ataxia, hypotonia, dystonia, and psychomotor regression

Onset: infant. mean age of diagnosis 1 year, age of death 10 years

Severity: severe

Treatment: None specific. Liver transplant may slow progression but not cure
Created: 4 Oct 2022, 2:54 a.m. | Last Modified: 4 Oct 2022, 2:54 a.m.
Panel Version: 0.274

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

Created: 4 Oct 2022, 2:54 a.m.
Last Modified: 4 Oct 2022, 2:54 a.m.
Panel version: 0.274

History Filter Activity

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mpv17 has been classified as Red List (Low Evidence).

6 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MPV17 were changed from Mitochondrial DNA depletion syndrome, hepatic to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mpv17 has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MPV17 was added gene: MPV17 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome, hepatic