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  2. Test MOI validation panel - do not edit
  3. SHD
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Test MOI validation panel - do not edit

Gene: SHD

Green List (high evidence)
SHD (Src homology 2 domain containing transforming protein D)
EnsemblGeneIds (GRCh38): ENSG00000105251
EnsemblGeneIds (GRCh37): ENSG00000105251
OMIM: 610481, Gene2Phenotype
SHD is in 0 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - MOI is Monallelic, maternally imprinted, but OMIM has no MOI
OMIM
610481
Clinvar variants
Variants in SHD
Penetrance
None
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: shd has been classified as Green List (High Evidence).

20 Oct 2020, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: SHD was added gene: SHD was added to TEST mode of inheritance validation panel. Sources: Literature Mode of inheritance for gene: SHD was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Phenotypes for gene: SHD were set to OMIM test - MOI is Monallelic, maternally imprinted, but OMIM has no MOI