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| Paediatric pseudo-obstruction syndrome v0.216 | MPV17 | Achchuthan Shanmugasundram commented on 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.195 | MPV17 | Arina Puzriakova Mode of inheritance for gene: MPV17 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.153 | MPV17 | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.152 | MPV17 | Achchuthan Shanmugasundram edited their review of gene: MPV17: Changed phenotypes to: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM:256810 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.152 | MPV17 |
Achchuthan Shanmugasundram changed review comment from: 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. This gene-disease association was already reported in both OMIM and G2P.; to: 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. |
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| Paediatric pseudo-obstruction syndrome v0.85 | MPV17 | Achchuthan Shanmugasundram Phenotypes for gene: MPV17 were changed from to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type); OMIM:256810 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.84 | MPV17 | Achchuthan Shanmugasundram Publications for gene: MPV17 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.83 | MPV17 | Achchuthan Shanmugasundram Classified gene: MPV17 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.83 | MPV17 | Achchuthan Shanmugasundram Gene: mpv17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.82 | MPV17 | Achchuthan Shanmugasundram reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: 23385875, 29282788, 35750291; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM:256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | MPV17 | Eleanor Williams reviewed gene: MPV17: Rating: ; Mode of pathogenicity: ; Publications: 23385875; Phenotypes: Elevated transaminases, GGT, hyperbilirubinemia, failure to thrive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | MPV17 |
Eleanor Williams 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 |
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