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| Clefting v4.100 | RAD21 | Sarah Leigh Tag Q4_22_promote_green was removed from gene: RAD21. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.100 | RAD21 | Sarah Leigh reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v4.99 | RAD21 |
Sarah Leigh Source Expert Review Green was added to RAD21. Source NHS GMS was added to RAD21. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Clefting v2.73 | RAD21 | Arina Puzriakova Classified gene: RAD21 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v2.73 | RAD21 | Arina Puzriakova Gene: rad21 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v2.72 | RAD21 |
Arina Puzriakova gene: RAD21 was added gene: RAD21 was added to Clefting. Sources: Literature Q4_22_promote_green tags were added to gene: RAD21. Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAD21 were set to 22633399; 27882533; 31334757; 32193685 Phenotypes for gene: RAD21 were set to Cornelia de Lange syndrome 4, OMIM:614701 Review for gene: RAD21 was set to GREEN Added comment: At least 33 unrelated families published with RAD21 alterations. Of these, 6 cases presented with cleft palate or submucous cleft palate. Although only displayed by a subset of patients, clefting is a congenital anomaly that may aid earlier diagnosis if other features such as ID have not yet become apparent. Therefore there would be value in including RAD21 on this panel with a Green rating. Sources: Literature |
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