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| Paediatric pseudo-obstruction syndrome v0.216 | LIG3 | Achchuthan Shanmugasundram commented on gene: LIG3: 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 v0.66 | LIG3 | Achchuthan Shanmugasundram Phenotypes for gene: LIG3 were changed from to Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.65 | LIG3 | Achchuthan Shanmugasundram Publications for gene: LIG3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.64 | LIG3 | Achchuthan Shanmugasundram Mode of inheritance for gene: LIG3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.63 | LIG3 | Achchuthan Shanmugasundram Classified gene: LIG3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.63 | LIG3 | Achchuthan Shanmugasundram Gene: lig3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.62 | LIG3 |
Achchuthan Shanmugasundram changed review comment from: Comment on rating: The rating should be GREEN as this gene has been implicated in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MIM #619780) from seven patients from three unrelated families, and supported by functional studies. These patients harboured compound heterozygous variants (family 1: p.K537N & p.G964R; family 2: p.C999Y & p.R267Ter; family 3: p.P609L & p.R811Ter) and their clinical phenotypes resembled the mitochondrial MINGE disease in many aspects. Severe dysmotility of the gut was present in all patients and most patients fulfilled the diagnostic criteria for CIPO. Evidence from skeletal muscle biopsies from patients from all three families showed mitochondrial dysfunction. In vitro assays in patient-derived cells showed a decrease in LIG3 protein levels and ligase activity. In addition, LIG3 gene defects result in mitochondrial DNA depletion. In vivo modelling of LIG3 mutations in zebrafish model also reproduced the brain alterations and impaired gut transit.; to: Comment on rating: The rating should be GREEN as this gene has been implicated in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MIM #619780) from seven patients from three unrelated families, and supported by functional studies. These patients harboured compound heterozygous variants (family 1: p.K537N & p.G964R; family 2: p.C999Y & p.R267Ter; family 3: p.P609L & p.R811Ter) and their clinical phenotypes resembled the mitochondrial MINGE disease in many aspects. Severe dysmotility of the gut was present in all patients and most patients fulfilled the diagnostic criteria for CIPO. Evidence from skeletal muscle biopsies from patients from all three families showed mitochondrial dysfunction. In vitro assays in patient-derived cells showed a decrease in LIG3 protein levels and ligase activity. In addition, LIG3 gene defects result in mitochondrial DNA depletion. In vivo modelling of LIG3 mutations in zebrafish model also reproduced the brain alterations and impaired gut transit. This gene has already been reported in OMIM. |
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| Paediatric pseudo-obstruction syndrome v0.62 | LIG3 | Achchuthan Shanmugasundram reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33855352; Phenotypes: Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | LIG3 | Eleanor Williams reviewed gene: LIG3: Rating: ; Mode of pathogenicity: ; Publications: 33855352; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | LIG3 |
Eleanor Williams gene: LIG3 was added gene: LIG3 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: LIG3 was set to |
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