Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Kidneyome_SuperPanel_VCGS

Gene: SRGAP1

Amber List (moderate evidence)

SRGAP1 (SLIT-ROBO Rho GTPase activating protein 1)
EnsemblGeneIds (GRCh38): ENSG00000196935
EnsemblGeneIds (GRCh37): ENSG00000196935
OMIM: 606523, Gene2Phenotype
SRGAP1 is in 1 panel

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
OMIM
606523
Clinvar variants
Variants in SRGAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2020, Gel status: 2

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

Eleanor Williams (Genomics England Curator)

gene: SRGAP1 was added gene: SRGAP1 was added to Kidneyome_SuperPanel_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Amber Mode of inheritance for gene: SRGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRGAP1 were set to 26026792 Phenotypes for gene: SRGAP1 were set to CAKUT