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Intellectual disability syndromic and non-syndromic

Gene: SOX5

Green List (high evidence)

SOX5 (SRY-box 5)
EnsemblGeneIds (GRCh38): ENSG00000134532
EnsemblGeneIds (GRCh37): ENSG00000134532
OMIM: 604975, Gene2Phenotype
SOX5 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: Note many cases reported of intragenic deletion.
Created: 30 Jan 2020, 11:58 p.m. | Last Modified: 30 Jan 2020, 11:58 p.m.
Panel Version: 0.1798

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lamb-Shaffer syndrome, MIM#616803

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Lamb-Shaffer syndrome, MIM#616803
Tags
SV/CNV
OMIM
604975
Clinvar variants
Variants in SOX5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Apr 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: SOX5.

30 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sox5 has been classified as Green List (High Evidence).

30 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOX5 were changed from Lamb-Shaffer syndrome, MIM#616803 to Lamb-Shaffer syndrome, MIM#616803

30 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOX5 were changed from to Lamb-Shaffer syndrome, MIM#616803

30 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SOX5 were set to

30 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SOX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SOX5 was added gene: SOX5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOX5 was set to Unknown