RASopathies
Gene: SHOC2EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 15 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Single variant (c.4A>G p.(Ser2Gly)) reported as a de novo in at least 15 cases. Functional studies show disrupted cellular localization.Created: 19 Jun 2019, 2:31 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Activating mutations indicted on G2P. Comment from reviewer: A single gain of function mutation in exon 1 of SHOC2 (c.4A>G p.(Ser2Gly)) reported to cause Noonan syndrome with loose anagen hair. (Helen Savage (Congenica Ltd), Jan. 21, 2016, 2:30 p.m).Created: 5 Feb 2016, 1:30 p.m.
Helen Savage (Congenica Ltd)
Single mutation c.4A>GCreated: 1 Feb 2016, 10:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome with loose anagen hair
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Eligibility statement prior genetic testing
- Phenotypes
-
- Noonan syndrome-like with loose anagen hair 1, 607721
- OMIM
- 602775
- Clinvar variants
- Variants in SHOC2
- Penetrance
- Complete
- 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
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Monogenic short stature
- Fetal hydrops
- Childhood solid tumours
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Fetal anomalies
- DDG2P
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SHOC2 were changed from Noonan-like syndrome with loose anagen hair to Noonan syndrome-like with loose anagen hair 1, 607721
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SHOC2 were set to PMID: 19684605; 22528146; 23918763
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SHOC2 were set to Noonan-like syndrome with loose anagen hair
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SHOC2 were set to PMID: 19684605; 22528146; 23918763
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SHOC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for SHOC2 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SHOC2 were set to Noonan-like syndrome with loose anagen hair;
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for SHOC2 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene SHOC2 were set to Noonan-like syndrome with loose anagen hair;Noonan-Like Syndrome with Loose Anagen Hair ;Noonan like syndrome with loose anagen hair, ;Noonan like syndrome with loose anagen hair; Noonan Spectrum Disorders;Noonan Spectrum Disorders;Noonan syndrome;Noonan syndrome plus other features;Legius syndrome;Costello syndrome;Cardio-facio-cutaneous syndrome;LEOPARD syndrome
Upload gene information
Ellen McDonagh (Genomics England Curator)SHOC2 was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,UKGTN
clearsources
Ellen McDonagh (Genomics England Curator)SHOC2All sources for gene: SHOC2 were removed
Added New Source
Ellen McDonagh (Genomics England Curator)SHOC2 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)SHOC2 was added to RASopathiespanel. Source: Emory Genetics Laboratory SHOC2 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)SHOC2 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
Created
Ellen McDonagh (Genomics England Curator)SHOC2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)SHOC2 was added to RASopathiespanel. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing