IUGR and IGF abnormalities

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 9 panels

1 review

emma baple (Genomics England Curator)

Comment on mode of pathogenicity: Gain of function
10 May 2016, 10:37 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Other
Phenotypes
  • Noonan with loss of anagen hair
OMIM
602775
Clinvar variants
Variants in SHOC2
Penetrance
Complete
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Set mode of pathogenicity

emma baple (Genomics England Curator)

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

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 1

Added New Source

emma baple (Genomics England Curator)

SHOC2 was added to IUGR and IGF abnormalitiespanel. Sources: Other,Emory Genetics Laboratory

10 May 2016, Gel status: 0

Created

emma baple (Genomics England Curator)

SHOC2 was created by ebapleC