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Cardiomyopathies - including childhood onset

Gene: SHOC2

Green List (high evidence)

SHOC2 (SHOC2, leucine rich repeat scaffold protein)
EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 16 panels

5 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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)

Red List (low evidence)

Noonan-like syndrome with loose anagen hair 6 OMIM#07721
Created: 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)

Green List (high evidence)

Single mutation c.4A>G
Created: 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

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SHOC2.

4 Sep 2019, Gel status: 3

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

4 Sep 2019, Gel status: 3

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