This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
Gene: SHOC2
SHOC2 (SHOC2, leucine rich repeat scaffold protein)
EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 15 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Noonan-like syndrome with loose anagen hair, 607721
- OMIM
- 602775
- Clinvar variants
- Variants in SHOC2
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
History Filter Activity
23 May 2017, Gel status: 4
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for SHOC2 were set to Noonan-like syndrome with loose anagen hair, 607721
23 May 2017, Gel status: 4
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for SHOC2 were set to Noonan-like syndrome with loose anagen hair, 607721; Noonan-Like Syndrome with Loose Anagen Hair
10 Dec 2015, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SHOC2 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SHOC2 was created by ellenmcdonagh