Severe microcephalyGene: RAD50
Comment on list classification: Relevant phenotype (two unrelated cases with severe congenital microcephaly) but additional cases required before inclusion of RAD50 on a diagnostic panel.
Rating Amber in anticipation of additional publications/clinical evidence (added to watchlist).
Created: 21 Sep 2020, 3:42 p.m. | Last Modified: 21 Sep 2020, 3:42 p.m.
Panel Version: 2.22
Two individuals reported with bi-allelic variants in this gene showing dysmorphic facial features similar to NBS, short stature, microcephaly, and mild/moderate intellectual disability. Fibroblasts established from one of the individuals showed chromosomal instability and abnormal radioresistant DNA synthesis. The MRE11/RAD50/NBN (MRN) complex is involved in signaling processes inducing the repair of DNA double-strand breaks. Variants in NBN and MRE11 are associated with Nijmegen breakage syndrome (NBS) and ataxia telangiectasia (AT)‐like disorder, respectively, so this gene is a strong biological candidate for this phenotype.
Created: 8 Sep 2020, 10:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Nijmegen breakage syndrome-like disorder, MIM# 613078
Variants in this GENE are reported as part of current diagnostic practice
Tag watchlist tag was added to gene: RAD50.
Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder, MIM# 613078 to Nijmegen breakage syndrome-like disorder, 613078
Publications for gene: RAD50 were set to 19409520; 32212377
Gene: rad50 has been classified as Amber List (Moderate Evidence).
gene: RAD50 was added gene: RAD50 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAD50 were set to 19409520; 32212377 Phenotypes for gene: RAD50 were set to Nijmegen breakage syndrome-like disorder, MIM# 613078 Review for gene: RAD50 was set to GREEN gene: RAD50 was marked as current diagnostic