Childhood solid tumours
Gene: SHOC2EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 15 panels
3 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that RASopathy associated genes associated with cancer will be included in this panel and that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Predisposition to cancer.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Publications
Lara Hawkes (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert List
- Phenotypes
-
- Noonan-like syndrome with loose anagen hair
- OMIM
- 602775
- Clinvar variants
- Variants in SHOC2
- Penetrance
- None
- Publications
- 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
Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to SHOC2. Source NHS GMS was added to SHOC2. Mode of inheritance for gene SHOC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Noonan-like syndrome with loose anagen hair for gene: SHOC2 Publications for gene SHOC2 were changed from to 19684605; 23875798 Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: SHOC2 was added gene: SHOC2 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: SHOC2 was set to