| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Paediatric pseudo-obstruction syndrome v0.216 | SUCLG1 | Achchuthan Shanmugasundram commented on gene: SUCLG1: 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 v0.155 | SUCLG1 | Achchuthan Shanmugasundram Classified gene: SUCLG1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.155 | SUCLG1 | Achchuthan Shanmugasundram Gene: suclg1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.154 | SUCLG1 |
Achchuthan Shanmugasundram edited their review of gene: SUCLG1: Added comment: Comment on list classification: This gene should be rated RED as I do not see any association of this gene with intestinal dysmotility and pseudo-obstruction. This gene has been associated with mitochondrial DNA depletion syndrome 9 (encephalomyopathic with or without methylmalonic aciduria) (MIM #245400) in OMIM. However, this disorder is characterised by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid. Although other frequent manifestations include feeding difficulty and gastroesophageal reflux, there is no clear indication of any links of this disorder with either pseudo-obstruction or intestinal dysmotility.; Changed rating: RED |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.154 | SUCLG1 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.147 | SUCLG1 | Achchuthan Shanmugasundram Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), OMIM:245400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.146 | SUCLG1 | Achchuthan Shanmugasundram Publications for gene: SUCLG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.145 | SUCLG1 | Achchuthan Shanmugasundram Mode of inheritance for gene: SUCLG1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.144 | SUCLG1 | Achchuthan Shanmugasundram Classified gene: SUCLG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.144 | SUCLG1 | Achchuthan Shanmugasundram Gene: suclg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.143 | SUCLG1 | Achchuthan Shanmugasundram edited their review of gene: SUCLG1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.143 | SUCLG1 | Achchuthan Shanmugasundram reviewed gene: SUCLG1: Rating: ; Mode of pathogenicity: None; Publications: 19526370, 20453710, 23385875, 26028457, 33230783, 35762302; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), OMIM:245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | SUCLG1 | Eleanor Williams reviewed gene: SUCLG1: Rating: ; Mode of pathogenicity: ; Publications: 23385875; Phenotypes: motor neuron changes on EMG, Decreased muscle tone, failure to thrive, microcephaly, GI dysmotility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | SUCLG1 |
Eleanor Williams gene: SUCLG1 was added gene: SUCLG1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: SUCLG1 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||