Hypertrophic cardiomyopathy_HCM
Gene: RAF1Comment on list classification: Included as one of the recommended 29 HCM genes to test by the ClinGen HCVD GCEP due to syndromic LVH being a feature of the condition that can be mistaken for HCMCreated: 22 Aug 2024, 8:54 a.m. | Last Modified: 22 Aug 2024, 8:54 a.m.
Panel Version: 0.192
No association with isolated HCM. Has been associated with isolated DCM but mainly associated with Noonan syndrome.Created: 29 Jul 2020, 2:05 a.m. | Last Modified: 29 Jul 2020, 2:05 a.m.
Panel Version: 0.89
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, dilated, 1NN MIM#615916; Noonan syndrome 5 MIM#611553
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: RAF1 were set to 24777450
Gene: raf1 has been classified as Green List (High Evidence).
Gene: raf1 has been classified as Red List (Low Evidence).
Phenotypes for gene: RAF1 were changed from to Cardiomyopathy, dilated, 1NN MIM#615916; Noonan syndrome 5 MIM#611553
Publications for gene: RAF1 were set to
Mode of inheritance for gene: RAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for gene: RAF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: raf1 has been classified as Red List (Low Evidence).
gene: RAF1 was added gene: RAF1 was added to Hypertrophic cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAF1 was set to Unknown