RASopathies
Gene: SHOC2Single 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.
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.
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
Phenotypes for gene: SHOC2 were changed from Noonan-like syndrome with loose anagen hair to Noonan syndrome-like with loose anagen hair 1, 607721
Publications for gene: SHOC2 were set to PMID: 19684605; 22528146; 23918763
This gene has been classified as Green List (High Evidence).
Phenotypes for SHOC2 were set to Noonan-like syndrome with loose anagen hair
Publications for SHOC2 were set to PMID: 19684605; 22528146; 23918763
Mode of inheritance for SHOC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
This gene has been classified as Green List (High Evidence).
Phenotypes for SHOC2 were set to Noonan-like syndrome with loose anagen hair;
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
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
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
SHOC2All sources for gene: SHOC2 were removed
SHOC2 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
SHOC2 was added to RASopathiespanel. Source: Emory Genetics Laboratory SHOC2 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
SHOC2 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
SHOC2 was created by ellenmcdonagh
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