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| Monogenic Diabetes v0.125 | LRBA |
Hali Van Niel changed review comment from: Established gene disease association with Immunodeficiency, common variable, 8, with autoimmunity, feature may present with type 1 diabetes, possibly neonatal 25468195: 1 patient T1DM 26768763: 5 patients with T1DM 27057999: 1 patient T1DM at 20months 26745254: 2 patients with T1DM, 1 at 2 years, one at infancy 25479458: 1 patient T1DM at 6 years 28473463: 8 patients with T1DM, three of which diagnosed <6months (neonatal diabetes) 26206937: 2 patient T1Dm, 2 years and 18months; to: Established gene disease association with Immunodeficiency, common variable, 8, with autoimmunity, feature may present with type 1 diabetes, possibly neonatal 25468195: 1 patient T1DM 26768763: 5 patients with T1DM 27057999: 1 patient T1DM at 20months 26745254: 2 patients with T1DM, 1 at 2 years, one at infancy 25479458: 1 patient T1DM at 6 years 28473463: 8 patients with T1DM, three of which diagnosed <6months (neonatal diabetes) 26206937: 2 patient T1Dm, 2 years and 18months all with AR null LRBA variants |
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| Monogenic Diabetes v0.125 | LRBA | Hali Van Niel reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25468195, 26768763, 27057999, 26745254, 25479458, 28473463, 26206937; Phenotypes: type 1 diabetes mellitus MONDO:0005147, neonatal diabetes mellitus MONDO:0016391, combined immunodeficiency due to LRBA deficiency MONDO:0013863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.0 | LRBA |
Zornitza Stark gene: LRBA was added gene: LRBA was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRBA were set to 25468195; 25479458; 26206937; 26745254; 27057999 Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity |
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