Paediatric or syndromic cardiomyopathy
Gene: SHOC2
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
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.
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
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
Source NHS GMS was added to SHOC2.
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
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