Growth failure in early childhood
Gene: RAD51After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Limited information to support this as a cause of FA. Maintain as amber for now."Created: 31 Jan 2023, 5:28 p.m. | Last Modified: 31 Jan 2023, 5:28 p.m.
Panel Version: 2.33
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 3 unrelated cases with relevant phenotype and different de novo variants. Phenotype-gene relationship listed in OMIM (MIM# 617244).
Other FA genes have been included on this panel as Green.Created: 13 Oct 2021, 4:06 p.m. | Last Modified: 13 Oct 2021, 4:06 p.m.
Panel Version: 1.85
Three unrelated patients have been identified to date (PMIDs: 26681308; 26253028; 30907510) with an atypical FA phonotype involving chromosomal instability without bone marrow failure or malignancies along with private heterozygous variants (c.877G>A; c.391A>C; c.725A>G) in the RAD51 gene. Variants occurred de novo with a dominant negative effect. All three individuals presented with thumb and radial abnormalities, microcephaly, and DD/ID (third patient showed early DD but above average IQ by age 13); and two individuals also had growth retardation (probable in third case but not reported on) and hearing impairment.
Sources: LiteratureCreated: 13 Oct 2021, 4:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Fanconi anemia, complementation group R, OMIM:617244
Publications
Tag Q4_21_rating was removed from gene: RAD51.
Gene: rad51 has been classified as Amber List (Moderate Evidence).
gene: RAD51 was added gene: RAD51 was added to Growth failure in early childhood. Sources: Literature Q4_21_rating tags were added to gene: RAD51. Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAD51 were set to 26681308; 26253028; 30907510 Phenotypes for gene: RAD51 were set to Fanconi anemia, complementation group R, OMIM:617244 Review for gene: RAD51 was set to GREEN