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Fetal anomalies

Gene: SHANK1

Amber List (moderate evidence)

SHANK1 (SH3 and multiple ankyrin repeat domains 1)
EnsemblGeneIds (GRCh38): ENSG00000161681
EnsemblGeneIds (GRCh37): ENSG00000161681
OMIM: 604999, Gene2Phenotype
SHANK1 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for AUTISM
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTISM
OMIM
604999
Clinvar variants
Variants in SHANK1
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: SHANK1 was added gene: SHANK1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SHANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHANK1 were set to AUTISM