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| Limb disorders v3.6 | RAD51 | Eleanor Williams Tag Q4_21_rating was removed from gene: RAD51. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v3.6 | RAD51 | Eleanor Williams reviewed gene: RAD51: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v3.5 | RAD51 |
Eleanor Williams Source Expert Review Green was added to RAD51. Source NHS GMS was added to RAD51. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Limb disorders v2.63 | RAD51 | Arina Puzriakova Classified gene: RAD51 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.63 | 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.63 | RAD51 | Arina Puzriakova Gene: rad51 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.62 | RAD51 |
Arina Puzriakova gene: RAD51 was added gene: RAD51 was added to Limb disorders. 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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| Limb disorders v0.275 | RAD51C | Eleanor Williams Classified gene: RAD51C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.275 | RAD51C | Eleanor Williams Gene: rad51c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.271 | RAD51C |
Eleanor Williams Mode of inheritance for gene RAD51C was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group O 613390 for gene: RAD51C Publications for gene RAD51C were changed from to 20400963; 29278735 |
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| Limb disorders v0.270 | RAD51C | Sarah Leigh reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: 20400963, 29278735; Phenotypes: Fanconi anemia, complementation group O 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||