Primary lymphoedemaGene: RIT1
Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).
Created: 27 Jun 2019, 3:50 p.m. | Last Modified: 27 Jun 2019, 3:50 p.m.
Panel Version: 1.72
Green gene from RASopathies (Version 1.55)(https://panelapp.genomicsengland.co.uk/panels/48/). Gain of function variants cause Noonan syndrome 8 615355
Created: 27 Jun 2019, 3:36 p.m. | Last Modified: 27 Jun 2019, 3:36 p.m.
Panel Version: 1.45
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Noonan syndrome 8 615355
Publications for gene: RIT1 were set to
Gene: rit1 has been classified as Green List (High Evidence).
gene: RIT1 was added gene: RIT1 was added to Primary lymphoedema. Sources: Expert Review Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RIT1 were set to Noonan syndrome 8 615355 Mode of pathogenicity for gene: RIT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments