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Kidneyome_SuperPanel_KidGen_VCGS

Gene: SOX11

Amber List (moderate evidence)

SOX11 (SRY-box 11)
EnsemblGeneIds (GRCh38): ENSG00000176887
EnsemblGeneIds (GRCh37): ENSG00000176887
OMIM: 600898, Gene2Phenotype
SOX11 is in 8 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Congenital abnormalities of the kidneys and urinary tract
OMIM
600898
Clinvar variants
Variants in SOX11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Dec 2019, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Congenital abnormalities of the kidneys and urinary tract for gene: SOX11

23 Dec 2019, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: SOX11 was added gene: SOX11 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX11 were set to 29459093; 24886874 Phenotypes for gene: SOX11 were set to Congenital abnormalities of the kidneys and urinary tract