| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Growth failure in early childhood v2.33 | RAD51 | Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: RAD51. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.33 | RAD51 | Catherine Snow commented on gene: RAD51 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.85 | RAD51 | Arina Puzriakova Classified gene: RAD51 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.85 | RAD51 |
Arina Puzriakova Added comment: 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. |
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| Growth failure in early childhood v1.85 | RAD51 | Arina Puzriakova Gene: rad51 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.84 | RAD51 |
Arina Puzriakova 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 Added comment: 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: Literature |
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