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STRs in panel
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Skeletal dysplasia

Gene: SOX11

Green List (high evidence)

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 10 cases were reported with Coffin-Siris syndrome phenotype - 3 with SNVs and 7 with deletions involving SOX11
Created: 6 Sep 2022, 10:56 p.m. | Last Modified: 6 Sep 2022, 10:56 p.m.
Panel Version: 0.198

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome MONDO:0015452

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Coffin-Siris syndrome: two individuals with de novo mono-allelic missense variants in this gene, mouse model.
CAKUT: Heterozygous variant in a patient with Coffin-Siris like syndrome and small kidney; but also rare variants identified in a non-syndromic CAKUT cohort with some functional data.
Sources: Expert list
Created: 28 Nov 2019, 9:02 a.m. | Last Modified: 13 Apr 2020, 11:39 a.m.
Panel Version: 0.2213

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 9, MIM# 615866; Congenital abnormalities of the kidneys and urinary tract

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Coffin-Siris syndrome MONDO:0015452
OMIM
600898
Clinvar variants
Variants in SOX11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sox11 has been classified as Green List (High Evidence).

6 Sep 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: SOX11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Sep 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: SOX11 were changed from Coffin-Siris syndrome to Coffin-Siris syndrome MONDO:0015452

6 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sox11 has been classified as Green List (High Evidence).

6 Sep 2022, Gel status: 0

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: SOX11 were set to

17 Dec 2019, Gel status: 0

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SOX11 was added gene: SOX11 was added to Skeletal dysplasia. Sources: Mode of inheritance for gene: SOX11 was set to Phenotypes for gene: SOX11 were set to Coffin-Siris syndrome