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| Likely inborn error of metabolism - targeted testing not possible v3.6 | GORAB |
Achchuthan Shanmugasundram Tag Q2_21_phenotype was removed from gene: GORAB. Tag Q2_22_rating was removed from gene: GORAB. Tag Q2_22_expert_review was removed from gene: GORAB. |
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| Likely inborn error of metabolism - targeted testing not possible v3.6 | GORAB | Achchuthan Shanmugasundram reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v3.5 | GORAB |
Achchuthan Shanmugasundram Source NHS GMS was added to GORAB. Source Expert Review Green was added to GORAB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism - targeted testing not possible v2.257 | GORAB |
Sarah Leigh Tag Q2_22_rating tag was added to gene: GORAB. Tag Q2_22_expert_review tag was added to gene: GORAB. |
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| Likely inborn error of metabolism - targeted testing not possible v2.60 | GORAB | Sarah Leigh Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum OMIM:231070; geroderma osteodysplastica MONDO:0009271 to Geroderma osteodysplasticum OMIM:231070; geroderma osteodysplastica MONDO:0009271 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.59 | GORAB |
Sarah Leigh edited their review of gene: GORAB: Added comment: PMID 30631079 demonstrates that disrupting variants in GORAB result in "impairment of COPI-mediated retrieval of trans-Golgi enzymes, resulting in a deficit in glycosylation of secretory cargo proteins. Our results therefore identify GORAB as a COPI scaffolding factor". The authors conclude that this finding supports the view that "defective protein glycosylation is a major disease mechanism in gerodermia osteodysplastica". Therefore variants in GORAB are relevant to this panel based on this mechanism.; Changed rating: GREEN |
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| Likely inborn error of metabolism - targeted testing not possible v2.59 | GORAB | Sarah Leigh Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.58 | GORAB | Sarah Leigh Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum to Geroderma osteodysplasticum OMIM:231070; geroderma osteodysplastica MONDO:0009271 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.57 | GORAB | Sarah Leigh Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.57 | GORAB | Sarah Leigh Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.57 | GORAB | Sarah Leigh Publications for gene: GORAB were set to 26000619 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.56 | GORAB | Sarah Leigh Classified gene: GORAB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.56 | GORAB | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.56 | GORAB | Sarah Leigh Gene: gorab has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.55 | GORAB | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: GORAB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | GORAB |
Ellen McDonagh gene: GORAB was added gene: GORAB was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GORAB were set to 26000619 Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum |
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