Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Likely inborn error of metabolism v8.94 MAN2B2 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: MAN2B2.
Tag Q2_25_ NHS_review was removed from gene: MAN2B2.
Likely inborn error of metabolism v8.94 MAN2B2 Achchuthan Shanmugasundram edited their review of gene: MAN2B2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Likely inborn error of metabolism v8.93 MAN2B2 Achchuthan Shanmugasundram Source NHS GMS was added to MAN2B2.
Source Expert Review Green was added to MAN2B2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v8.5 MAN2B2 Arina Puzriakova Classified gene: MAN2B2 as Amber List (moderate evidence)
Likely inborn error of metabolism v8.5 MAN2B2 Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to promote this gene to Green at the next GMS panel update.
Likely inborn error of metabolism v8.5 MAN2B2 Arina Puzriakova Gene: man2b2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v8.4 MAN2B2 Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: MAN2B2.
Tag Q2_25_ NHS_review tag was added to gene: MAN2B2.
Likely inborn error of metabolism v8.4 MAN2B2 Arina Puzriakova reviewed gene: MAN2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38622837; Phenotypes: Congenital disorder of glycosylation type 1EE with or without immunodeficiency, OMIM:621140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v8.4 MAN2B2 Arina Puzriakova Publications for gene: MAN2B2 were set to 31775018; 35637269
Likely inborn error of metabolism v8.3 MAN2B2 Arina Puzriakova Phenotypes for gene: MAN2B2 were changed from congenital disorder of glycosylation, MONDO:0015286 to Congenital disorder of glycosylation type 1EE with or without immunodeficiency, OMIM:621140
Likely inborn error of metabolism v7.27 MAN2B2 Julia Baptista reviewed gene: MAN2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38622837, 31775018, 35637269; Phenotypes: congenital disorders of glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v4.98 MAN2B2 Sarah Leigh Entity copied from Congenital disorders of glycosylation v4.16
Likely inborn error of metabolism v4.98 MAN2B2 Sarah Leigh gene: MAN2B2 was added
gene: MAN2B2 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B2 were set to 31775018; 35637269
Phenotypes for gene: MAN2B2 were set to congenital disorder of glycosylation, MONDO:0015286