Monogenic short stature
Gene: SOS1EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 18 panels
1 review
Rebecca Foulger (Genomics England curator)
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
Noonan syndrome; Noonan syndrome 4
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
-
- Noonan syndrome 4, OMIM:610733
- 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
-
- Intellectual disability
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- Fetal hydrops
- Embryonal tumour of possible germline origin
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Osteogenesis imperfecta
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Childhood solid tumours
- Hereditary neuropathy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Arina Puzriakova (Genomics England Curator)gene: SOS1 was added gene: SOS1 was added to Monogenic short stature. Sources: Expert Review Green Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOS1 were set to 17143285; 17143282; 17586837; 19438935 Phenotypes for gene: SOS1 were set to Noonan syndrome 4, OMIM:610733 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