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Growth failure

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 20 affected individuals reported. Short stature is a key feature.
Created: 11 Sep 2020, 11:04 a.m. | Last Modified: 6 Aug 2021, 8:04 a.m.
Panel Version: 0.66

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome 5, MIM# 611553

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome 5, MIM# 611553
OMIM
164760
Clinvar variants
Variants in RAF1
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

6 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAF1 were changed from Noonan syndrome 5; Noonan syndrome; LEOPARD syndrome 2; Rasopathy; LEOPARD syndrome to Noonan syndrome 5, MIM# 611553

6 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAF1 were set to 17603483; 17603482

19 Jul 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAF1 was added gene: RAF1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAF1 were set to 17603483; 17603482 Phenotypes for gene: RAF1 were set to Noonan syndrome 5; Noonan syndrome; LEOPARD syndrome 2; Rasopathy; LEOPARD syndrome Mode of pathogenicity for gene: RAF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments