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| BabyScreen+ newborn screening v0.2025 | MAGT1 | Zornitza Stark Marked gene: MAGT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2025 | MAGT1 | Zornitza Stark Gene: magt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2025 | MAGT1 | Zornitza Stark Classified gene: MAGT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2025 | MAGT1 | Zornitza Stark Gene: magt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2024 | MAGT1 |
Zornitza Stark gene: MAGT1 was added gene: MAGT1 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: MAGT1. Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MAGT1 were set to 31036665; 31714901 Phenotypes for gene: MAGT1 were set to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853) Review for gene: MAGT1 was set to GREEN Added comment: XMEN is an X-linked recessive immunodeficiency characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation. Affected individuals have chronic Epstein-Barr virus (EBV) infection and are susceptible to the development of EBV-associated B-cell lymphoproliferative disorders. Variable age of onset, including in early childhood. Treatment: Mg supplementation; IVIG, BMT. Non-genetic confirmatory testing: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile, Carbohydrate deficient glycosylation profile Sources: Expert list |
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| BabyScreen+ newborn screening v0.1688 | DPAGT1 |
Zornitza Stark Tag treatable tag was added to gene: DPAGT1. Tag neurological tag was added to gene: DPAGT1. |
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| BabyScreen+ newborn screening v0.661 | DPAGT1 | Zornitza Stark Tag for review was removed from gene: DPAGT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.541 | DPAGT1 | Zornitza Stark Marked gene: DPAGT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.541 | DPAGT1 | Zornitza Stark Gene: dpagt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.541 | DPAGT1 | Zornitza Stark Phenotypes for gene: DPAGT1 were changed from Congenital disorder of glycosylation, type Ij, MIM#614750 to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.540 | DPAGT1 | Zornitza Stark Tag for review tag was added to gene: DPAGT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.540 | DPAGT1 | Zornitza Stark reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ij, MIM# 608093, DPAGT1-CDG MONDO:0011964, Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.523 | DPAGT1 | John Christodoulou reviewed gene: DPAGT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | AGTR1 |
Zornitza Stark gene: AGTR1 was added gene: AGTR1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis |
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| BabyScreen+ newborn screening v0.0 | AGT |
Zornitza Stark gene: AGT was added gene: AGT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGT were set to Renal tubular dysgenesis |
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| BabyScreen+ newborn screening v0.0 | DPAGT1 |
Zornitza Stark gene: DPAGT1 was added gene: DPAGT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij, MIM#614750 |
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