Hypertrophic cardiomyopathy_HCM

Gene: RAF1

Green List (high evidence)

RAF1 (Raf-1 proto-oncogene, serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000132155
EnsemblGeneIds (GRCh37): ENSG00000132155
OMIM: 164760, Gene2Phenotype
RAF1 is in 16 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment 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 HCM
Created: 22 Aug 2024, 8:54 a.m. | Last Modified: 22 Aug 2024, 8:54 a.m.
Panel Version: 0.192

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

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

History Filter Activity

22 Aug 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: RAF1 were set to 24777450

22 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: raf1 has been classified as Green List (High Evidence).

29 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: raf1 has been classified as Red List (Low Evidence).

29 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAF1 were changed from to Cardiomyopathy, dilated, 1NN MIM#615916; Noonan syndrome 5 MIM#611553

29 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAF1 were set to

29 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RAF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: raf1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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