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Congenital disorders of glycosylation v5.1 Arina Puzriakova Panel version 5.0 has been signed off on 2024-05-01
Congenital disorders of glycosylation v4.1 Arina Puzriakova Panel version 4.0 has been signed off on 2023-03-22
Congenital disorders of glycosylation v3.1 Catherine Snow Panel version 3.0 has been signed off on 2022-11-30
Congenital disorders of glycosylation v2.50 MAGT1 Sarah Leigh Added comment: Comment on phenotypes: Congenital disorder of glycosylation, type Icc OMIM:301031; congenital disorder of glycosylation, type ICC MONDO:0026729;Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia OMIM:300853;X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MONDO:0010455
Congenital disorders of glycosylation v2.50 MAGT1 Sarah Leigh Phenotypes for gene: MAGT1 were changed from Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853; IAP-CDG (Disorders of protein N-glycosylation) to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853; IAP-CDG (Disorders of protein N-glycosylation)
Congenital disorders of glycosylation v2.14 MAGT1 Zornitza Stark reviewed gene: MAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31036665, 31714901; Phenotypes: Congenital disorder of glycosylation, type Icc (MIM# 301031), Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Congenital disorders of glycosylation v2.5 Catherine Snow Panel version has been signed off
Congenital disorders of glycosylation v2.4 Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Congenital disorders of glycosylation v2.3 Catherine Snow Panel version has been signed off
Congenital disorders of glycosylation v2.2 Catherine Snow Panel types changed to Rare Disease 100K; Component Of Super Panel; GMS signed-off
Congenital disorders of glycosylation v2.0 GNE Rebecca Foulger commented on gene: GNE
Congenital disorders of glycosylation v1.36 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Congenital disorders of glycosylation GNE Sarah Leigh marked GNE as ready
Congenital disorders of glycosylation GNE Sarah Leigh commented on GNE
Congenital disorders of glycosylation GNE Daniel Ungar reviewed GNE