Paediatric pseudo-obstruction syndrome
Gene: MPV17
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
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
Mode of inheritance for gene: MPV17 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Phenotypes for gene: MPV17 were changed from to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type); OMIM:256810
Publications for gene: MPV17 were set to
Gene: mpv17 has been classified as Green List (High Evidence).
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