Hypertrophic cardiomyopathy
Gene: SOS1
SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1)
EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 18 panels
2 reviews
Rebecca Whittington (South West GLH)
Noonan syndrome 4 (610773)Created: 25 Mar 2019, 4:30 p.m.
Rasopathy gene. https://omim.org/clinicalSynopsis/610733. HCM and stenosis can be a key feature as shown in OMIM.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- Expert list
- Phenotypes
-
- syndromic HCM
- OMIM
- 182530
- Clinvar variants
- Variants in SOS1
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Childhood solid tumours cancer susceptibility
- Embryonal tumour of possible germline origin
- Primary lymphoedema
- Hypertrophic cardiomyopathy
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Osteogenesis imperfecta
- Hereditary neuropathy
- Fetal hydrops
- Intellectual disability
- Hereditary neuropathy or pain disorder
- DDG2P
- RASopathies
- IUGR and IGF abnormalities
- Childhood solid tumours
- Pigmentary skin disorders
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to SOS1. Mode of inheritance for gene SOS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SOS1 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list