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  2. Cardiomyopathy_Paediatric
  3. SOS1
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Cardiomyopathy_Paediatric

Gene: SOS1

Green List (high evidence)
SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1)
EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 14 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • NHS GMS
  • Expert Review Green
  • Expert List
  • London South GLH
Phenotypes
  • Noonan syndrome
  • Noonan syndrome 4
  • Noonan syndrome 4 610733
  • syndromic HCM
OMIM
182530
Clinvar variants
Variants in SOS1
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

28 Jul 2020, 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: SOS1 was added gene: SOS1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOS1 were set to 19438935; 17143285; 17143282; 17586837 Phenotypes for gene: SOS1 were set to Noonan syndrome; Noonan syndrome 4; Noonan syndrome 4 610733; syndromic HCM Mode of pathogenicity for gene: SOS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments