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Congenital disorders of glycosylation v3.4 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.
Congenital disorders of glycosylation v3.4 GORAB Achchuthan Shanmugasundram reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.3 GORAB Achchuthan Shanmugasundram Source Expert Review Green was added to GORAB.
Source NHS GMS was added to GORAB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.82 GORAB Sarah Leigh Tag Q2_22_rating tag was added to gene: GORAB.
Tag Q2_22_expert_review tag was added to gene: GORAB.
Congenital disorders of glycosylation v2.47 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
Congenital disorders of glycosylation v2.47 GORAB Sarah Leigh Publications for gene: GORAB were set to 26000619; 18348262; 28807865; 30631079
Congenital disorders of glycosylation v2.46 GORAB Sarah Leigh Classified gene: GORAB as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.46 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.
Congenital disorders of glycosylation v2.46 GORAB Sarah Leigh Gene: gorab has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.45 GORAB Sarah Leigh Tag Q2_21_phenotype tag was added to gene: GORAB.
Congenital disorders of glycosylation v2.45 GORAB Sarah Leigh Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum 231070 to Geroderma osteodysplasticum OMIM:231070; geroderma osteodysplastica MONDO:0009271
Congenital disorders of glycosylation v2.44 GORAB Sarah Leigh Publications for gene: GORAB were set to 26000619
Congenital disorders of glycosylation v2.14 GORAB Zornitza Stark edited their review of gene: GORAB: Set current diagnostic: yes
Congenital disorders of glycosylation v2.14 GORAB Zornitza Stark reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18348262, 28807865, 30631079; Phenotypes: Geroderma osteodysplasticum MIM#231070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation GORAB Sarah Leigh marked GORAB as ready
Congenital disorders of glycosylation GORAB Sarah Leigh commented on GORAB
Congenital disorders of glycosylation GORAB Sarah Leigh classified GORAB as red
Congenital disorders of glycosylation GORAB Daniel Ungar added GORAB to panel
Congenital disorders of glycosylation GORAB Daniel Ungar reviewed GORAB