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Fetal anomalies v0.4201 RAD50 Zornitza Stark Marked gene: RAD50 as ready
Fetal anomalies v0.4201 RAD50 Zornitza Stark Gene: rad50 has been classified as Green List (High Evidence).
Fetal anomalies v0.4162 RAD50 Chirag Patel Classified gene: RAD50 as Green List (high evidence)
Fetal anomalies v0.4162 RAD50 Chirag Patel Gene: rad50 has been classified as Green List (High Evidence).
Fetal anomalies v0.4161 RAD50 Chirag Patel gene: RAD50 was added
gene: RAD50 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAD50 were set to PMID: 19409520; 32212377; 33378670
Phenotypes for gene: RAD50 were set to Nijmegen breakage syndrome-like disorder, MIM# 613078; MONDO:0013118
Review for gene: RAD50 was set to GREEN
Added comment: Nijmegen breakage syndrome-like disorder (NBSLD) is an autosomal recessive disorder characterized by severe prenatal growth retardation and persistent postnatal growth restriction, congenital microcephaly, borderline to mildly impaired intellectual development, normal sexual development, and radioresistant DNA synthesis with no immunodeficiency, myelodysplasia, or early neurodegeneration. Three unrelated families reported.
Sources: Expert list