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| BabyScreen+ newborn screening v0.1448 | RFX5 | Zornitza Stark Marked gene: RFX5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1448 | RFX5 | Zornitza Stark Gene: rfx5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1448 | RFX5 | Zornitza Stark Classified gene: RFX5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1448 | RFX5 | Zornitza Stark Gene: rfx5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1447 | RFX5 |
Zornitza Stark Tag treatable tag was added to gene: RFX5. Tag immunological tag was added to gene: RFX5. |
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| BabyScreen+ newborn screening v0.1447 | RFX5 |
Zornitza Stark gene: RFX5 was added gene: RFX5 was added to gNBS. Sources: Expert Review Mode of inheritance for gene: RFX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFX5 were set to Bare lymphocyte syndrome, type II, complementation group C MIM# 209920; Bare lymphocyte syndrome, type II, complementation group E MIM# 209920 Review for gene: RFX5 was set to GREEN Added comment: Bare lymphocyte syndrome, type II, complementation group C 9 individuals from 8 unrelated families; multiple mouse models Homozygous and Compound heterozygous (Nonsense, missense, splice site, single bp del) variants were reported resulting in truncated protein and loss of function. All individuals presented with recurrent lower respiratory tract infection early in life, low CD4+ cells and/or failure to thrive, chronic diarrhoea, hepatosplenomegaly and low Ig levels. ---------- Bare lymphocyte syndrome, type II, complementation group E 2 siblings (twins) reported with RPX5 variants and new BLS group E phenotype; multiple functional studies Identified homozygous missense variant (R149Q) which resulted in altered DNA-binding domain and loss of function. These histo-identical twin brothers had normal numbers of CD4 + cells and are able to mount both cellular and humoral immune responses. They displayed absence of MHC class II surface expression on B cells and mononuclear cells. Presentation is typically in infancy. Treatment: BMT. Sources: Expert Review |
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