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Congenital disorders of glycosylation v3.4 TMEM199 Achchuthan Shanmugasundram Tag Q3_21_rating was removed from gene: TMEM199.
Congenital disorders of glycosylation v3.4 TMEM199 Achchuthan Shanmugasundram reviewed gene: TMEM199: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital disorders of glycosylation v3.3 TMEM199 Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM199.
Source NHS GMS was added to TMEM199.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.78 TMEM199 Ivone Leong Tag Q3_21_rating tag was added to gene: TMEM199.
Congenital disorders of glycosylation v2.65 TMEM199 Sarah Leigh Phenotypes for gene: TMEM199 were changed from Congenital disorder of glycosylation, type IIp 616829 to Congenital disorder of glycosylation, type IIp OMIM:616829; TMEM199-CDG MONDO:0014790
Congenital disorders of glycosylation v2.64 TMEM199 Sarah Leigh Publications for gene: TMEM199 were set to 26833330
Congenital disorders of glycosylation v2.63 TMEM199 Sarah Leigh Classified gene: TMEM199 as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.63 TMEM199 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 v2.63 TMEM199 Sarah Leigh Gene: tmem199 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.14 TMEM199 Zornitza Stark reviewed gene: TMEM199: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833330, 29321044; Phenotypes: Congenital disorder of glycosylation, type IIp MIM# 616829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital disorders of glycosylation v2.0 TMEM199 Sarah Leigh edited their review of gene: TMEM199: Added comment: Should be promoted from Red to Green, due to feedback from the GMS Metabolic Specialist disease test group: 4 patients from 3 unrelated families reported in the literature. All patients had a type 2 pattern on serum transferrin isoelectric focusing (IEF), indicating abnormal N-glycosylation, as well as abnormal IEF of ApoC-III, indicating abnormal O-glycosylation (PMID:26833330). Ellen McDonagh (Genomics England Curator), 4 Dec 2019.; Changed rating: GREEN; Changed publications: 26833330
Congenital disorders of glycosylation TMEM199 Sarah Leigh marked TMEM199 as ready
Congenital disorders of glycosylation TMEM199 Sarah Leigh commented on TMEM199
Congenital disorders of glycosylation TMEM199 Daniel Ungar commented on TMEM199
Congenital disorders of glycosylation TMEM199 Daniel Ungar reviewed TMEM199