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| Paediatric pseudo-obstruction syndrome v0.216 | RRM2B | Achchuthan Shanmugasundram commented on gene: RRM2B: The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.128 | RRM2B | Achchuthan Shanmugasundram Phenotypes for gene: RRM2B were changed from to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.127 | RRM2B | Achchuthan Shanmugasundram Publications for gene: RRM2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.126 | RRM2B | Achchuthan Shanmugasundram Mode of inheritance for gene: RRM2B was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.125 | RRM2B |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene should be rated RED as this gene was associated with mitochondrial DNA depletion syndrome 8B (MNGIE type) (#612075) from only one patient from PMID:19667227. This adult patient exhibited clinical findings strongly suggestive for MNGIE such as gastrointestinal dysmotility, cachexia and peripheral neuropathy. This patient also showed severe mtDNA depletion in muscle tissue and was identified with two variants in the RRM2B gene. Although gastrointestinal phenotypes are found in some of the patients with mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) (10 out of 31), these are limited to recurrent vomiting, feed intolerance, chronic diarrhea and cachexia and none of them had gastrointestinal dysmotility or pseudo-obstruction. This gene is associated with relevant phenotypes in both OMIM and G2P.; to: Comment on list classification: This gene should be rated RED as this gene was associated with mitochondrial DNA depletion syndrome 8B (MNGIE type) (#612075) from only one patient from PMID:19667227. This adult patient exhibited clinical findings strongly suggestive for MNGIE such as gastrointestinal dysmotility, cachexia and peripheral neuropathy. This patient also showed severe mtDNA depletion in muscle tissue and was identified with two variants in the RRM2B gene. Although gastrointestinal phenotypes are found in some of the patients with mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) (10 out of 31), these are limited to recurrent vomiting, feed intolerance, chronic diarrhea and cachexia and none of them had gastrointestinal dysmotility or pseudo-obstruction (PMID:24741716). This gene is associated with relevant phenotypes in both OMIM and G2P. |
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| Paediatric pseudo-obstruction syndrome v0.125 | RRM2B | Achchuthan Shanmugasundram edited their review of gene: RRM2B: Changed publications to: 19667227, 23385875, 24741716 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.125 | RRM2B | Achchuthan Shanmugasundram reviewed gene: RRM2B: Rating: RED; Mode of pathogenicity: None; Publications: 19667227, 23385875; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | RRM2B | Eleanor Williams reviewed gene: RRM2B: Rating: ; Mode of pathogenicity: ; Publications: 23385875; Phenotypes: Issues in maintenance of mtDNA dNTP pools; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | RRM2B |
Eleanor Williams gene: RRM2B was added gene: RRM2B was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: RRM2B was set to |
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