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| BabyScreen+ newborn screening v1.114 | ABAT | Tommy Li Added phenotypes GABA-transaminase deficiency for gene: ABAT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2022 | LRBA |
Zornitza Stark gene: LRBA was added gene: LRBA was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: LRBA. Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRBA were set to 22608502; 22721650; 25468195; 26206937; 33155142; 31887391 Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700 Review for gene: LRBA was set to GREEN Added comment: Well established gene-disease association. Generally childhood onset with recurrent infections and autoimmune phenomena. Treatment: abatacept, BMT. Non-genetic confirmatory testing: immunoglobulin levels. Sources: Expert list |
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| BabyScreen+ newborn screening v0.0 | ABAT |
Zornitza Stark gene: ABAT was added gene: ABAT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABAT were set to GABA-transaminase deficiency |
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