Clefting
Gene: RAD21
The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 9:26 a.m. | Last Modified: 11 Oct 2023, 9:26 a.m.
Panel Version: 4.100
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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: LiteratureCreated: 15 Nov 2022, 12:35 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cornelia de Lange syndrome 4, OMIM:614701
Publications
Tag Q4_22_promote_green was removed from gene: RAD21.
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)
Gene: rad21 has been classified as Amber List (Moderate Evidence).
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