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  3. SOX5
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Microcephaly

Gene: SOX5

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

1 review

Rylee Peters (Victorian Clinical Genetics Services)

I don't know

Cohort of 16 patients with heterozygous variants in SOX5. Paper also describes 71 previously reported cases of individuals with variants in SOX5 associated with Lamb–Shaffer Syndrome.

Microcephaly is reported in 14% of individuals with variants in SOX5 (calculated from both the current and previously reported cohorts).
Sources: Literature
Created: 22 Dec 2023, 1:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lamb-Shaffer syndrome, MIM#616803

Publications

Created: 22 Dec 2023, 1:14 a.m.

Panel version: 1.245

Details

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

History Filter Activity

27 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sox5 has been classified as Amber List (Moderate Evidence).

27 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sox5 has been classified as Amber List (Moderate Evidence).

22 Dec 2023, Gel status: 0

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

Rylee Peters (Victorian Clinical Genetics Services)

gene: SOX5 was added gene: SOX5 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: SOX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX5 were set to PMID: 36861937 Phenotypes for gene: SOX5 were set to Lamb-Shaffer syndrome, MIM#616803 Review for gene: SOX5 was set to AMBER