| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Combined Immunodeficiency v1.50 | RAD50 | Zornitza Stark Marked gene: RAD50 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.50 | RAD50 | Zornitza Stark Gene: rad50 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.50 | RAD50 | Zornitza Stark Phenotypes for gene: RAD50 were changed from Hypogammaglobulinaemia to Nijmegen breakage syndrome-like disorder, MIM# 613078; Hypogammaglobulinaemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.49 | RAD50 | Zornitza Stark Classified gene: RAD50 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.49 | RAD50 | Zornitza Stark Gene: rad50 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.48 | RAD50 |
Peter McNaughton gene: RAD50 was added gene: RAD50 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAD50 were set to PMID: 37794136 Phenotypes for gene: RAD50 were set to Hypogammaglobulinaemia Review for gene: RAD50 was set to GREEN Added comment: In addition to the clinical characteristics of growth retardation, microcephaly, fetal growth restriction and skin manifestations patients develop immune deficiency with variable penetrance characterised by hypogammaglobulinaemia, low naïve T cells and low B cells with low or undetectable κ-deleting recombination excision circles similar to the immune deficiency seen in AT and NBS. Sources: Literature |
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