STRs in panel
Prev Next

Growth failure in early childhood

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that genes associated with RASopathies should be included on this panel, excluding NF1. Therefore kept on the panel as a Green gene.
Created: 30 May 2019, 9:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan-like syndrome with loose anagen hair

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Noonan with loss of anagen hair
  • Noonan-like syndrome with loose anagen hair
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

18 Jun 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SHOC2 were set to

30 May 2019, Gel status: 4

Set mode of pathogenicity, Set Phenotypes

Rebecca Foulger (Genomics England curator)

Mode of pathogenicity for gene SHOC2 was changed from Other - please provide details in the comments 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

14 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

gene: SHOC2 was added gene: SHOC2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SHOC2 were set to Noonan with loss of anagen hair Mode of pathogenicity for gene: SHOC2 was set to Other - please provide details in the comments