Growth failure in early childhood

Gene: BRAF

Green List (high evidence)

BRAF (B-Raf proto-oncogene, serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 20 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that genes associated with RASopathies should be included on this panel, excluding NF1. Therefore kept on the panel as a Green gene.
Created: 30 May 2019, 9:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
LEOPARD Syndrome; Noonan Syndrome; Cardiofaciocutaneous Syndrome; LEOPARD syndrome 3; Cardio-facio-cutaneous syndrome

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
Phenotypes
  • LEOPARD syndrome 3
  • LEOPARD Syndrome
  • Cardiofaciocutaneous syndrome
  • Cardiofaciocutaneous Syndrome
  • Cardio-facio-cutaneous syndrome
  • Noonan Syndrome
OMIM
164757
Clinvar variants
Variants in BRAF
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

18 Jun 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: BRAF were set to 16825433, 16474404; 19206169; 21396583

18 Jun 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: BRAF were set to 16825433, 16474404

30 May 2019, Gel status: 4

Set mode of pathogenicity, Set Phenotypes

Rebecca Foulger (Genomics England curator)

Mode of pathogenicity for gene BRAF was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Cardiofaciocutaneous Syndrome; LEOPARD Syndrome; Cardio-facio-cutaneous syndrome; Noonan Syndrome; LEOPARD syndrome 3 for gene: BRAF

14 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: BRAF was added gene: BRAF was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRAF were set to 16825433, 16474404 Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome