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| BabyScreen+ newborn screening v0.2027 | MALT1 | Zornitza Stark Marked gene: MALT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2027 | MALT1 | Zornitza Stark Gene: malt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2027 | MALT1 | Zornitza Stark Classified gene: MALT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2027 | MALT1 | Zornitza Stark Gene: malt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2026 | MALT1 |
Zornitza Stark gene: MALT1 was added gene: MALT1 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: MALT1. Mode of inheritance for gene: MALT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MALT1 were set to Immunodeficiency 12 MIM# 615468 Review for gene: MALT1 was set to GREEN Added comment: 5 individuals from 3 unrelated families with immunodeficiency phenotype have reported variants in MALT1; two MALT1-knockout mouse models displaying primary T- and B-cell lymphocyte deficiency. Variants identified were homozygous missense variants resulting in the alteration of highly conserved residue domains. All individuals reported onset in infancy of recurrent bacterial/ fungal/ viral infections leading to bronchiectasis and poor T-cell proliferation. Treatment: prophylactic antibiotics, IVIG, BMT. Non-genetic confirmatory testing: no Sources: Expert list |
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