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Paediatric pseudo-obstruction syndrome

Gene: MPV17

Green List (high evidence)
MPV17 (MPV17, mitochondrial inner membrane protein)
EnsemblGeneIds (GRCh38): ENSG00000115204
EnsemblGeneIds (GRCh37): ENSG00000115204
OMIM: 137960, Gene2Phenotype
MPV17 is in 21 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Comment on rating: The rating should be GREEN as this gene has been implicated in Navajo neurohepatopathy (MIM #256810) from multiple (>3) unrelated cases, and supported by functional studies.

PMID:35750291 recently reported two patients from unrelated families with different variants from MPV17 gene.

PMID:29282788 summarised the clinical features of 100 affected individuals with a total of 48 pathogenic variants in MPV17 gene, of which 25 new individuals with nine novel variants were reported in this publication. About a third of these individuals have feeding difficulties and gastrointestinal dysmotility manifesting as gastroesophagal reflux, recurrent vomiting, and diarrhoea.

This gene-disease association was already reported in both OMIM and G2P.
Created: 29 Dec 2022, 6:35 p.m. | Last Modified: 1 Jan 2023, 9:07 a.m.
Panel Version: 0.152

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM:256810

Publications

Created: 29 Dec 2022, 6:35 p.m.
Last Modified: 1 Jan 2023, 9:07 a.m.
Panel version: 0.216

Eleanor Williams (Genomics England Curator)

Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Mitochondrial depletion disorders (MNGIE, MELAS, myopathy, other). Protein function: Encodes inner mitochondrial DNA protein, function largely unknown.
Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Elevated transaminases, GGT, hyperbilirubinemia, failure to thrive

Publications

Created: 20 Dec 2022, 3:32 p.m.
Last Modified: 20 Dec 2022, 3:32 p.m.
Panel version: 0.2

History Filter Activity

4 Jan 2023, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: MPV17 was changed from to BIALLELIC, autosomal or pseudoautosomal

2 Jan 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

29 Dec 2022, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: MPV17 were changed from to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type); OMIM:256810

29 Dec 2022, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: MPV17 were set to

29 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: MPV17 was added gene: MPV17 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: MPV17 was set to