Paediatric or syndromic cardiomyopathy
Gene: SHOC2EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 15 panels
5 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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.
Rebecca Whittington (South West GLH)
Noonan-like syndrome with loose anagen hair 6 OMIM#07721Created: 25 Mar 2019, 4:30 p.m.
Four variants associated with Noonan/rasopathy/similar features. https://omim.org/clinicalSynopsis/607721. OMIM: may be more CHD anomalies: Most of the patients also had darkly pigmented skin with eczema or ichthyosis. Cardiac anomalies were observed in the majority of the subjects, with mitral valve and septal defects overrepresented compared to the general population of Noonan syndrome patients. The affected individuals' voices were characteristically hypernasal.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
-
- NHS GMS
- Expert List
- South West GLH
- London South GLH
- Expert Review Green
- Phenotypes
-
- Noonan-like syndrome with loose anagen hair
- syndromic HCM
- OMIM
- 602775
- Clinvar variants
- Variants in SHOC2
- 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
-
- DDG2P
- 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
- Intellectual disability
History Filter Activity
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to SHOC2.
Added New Source, Set mode of pathogenicity, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source Expert List was added to SHOC2. Mode of pathogenicity for gene SHOC2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Noonan-like syndrome with loose anagen hair for gene: SHOC2 Publications for gene SHOC2 were changed from 22528146; 23918763; PMID: 19684605 to 19684605; 22528146; 23918763
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SHOC2 was added gene: SHOC2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHOC2 were set to 22528146; 23918763; PMID: 19684605 Phenotypes for gene: SHOC2 were set to syndromic HCM; Noonan-like syndrome with loose anagen hair