• 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SOX5 (HGNC:11201) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
SRY-box transcription factor 5
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
L-SOX5, MGC35153
%HI
0.74(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.19(Read more about gnomAD LOEUF score)
Cytoband
12p12.1
Genomic Coordinates
GRCh37/hg19: chr12:23682438-24715425 NCBI Ensembl UCSC
GRCh38/hg38: chr12:23529504-24562650 NCBI Ensembl UCSC
MANE Select Transcript
NM_006940.6 ENST00000451604.7 (Read more about MANE Select)
Function
Transcription factor involved in chondrocytes differentiation and cartilage formation. Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein- coding genes, such as COL2A1 and AGC1. Required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes: SOX5 and SOX6 cooperatively bind with SOX9 on active enhancers and super-enhan... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-28421
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Related Links:
Last Evaluated:
08/19/2016

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 22290657
    Eight individuals with intragenic SOX5 deletions (four are apparently de novo and one inherited from an affected parent) are described.Common features include prominent speech delay, intellectual disability, behavior abnormalities, and dysmorphic features. The phenotypic impact of the deletions was thought to depend on the location of the deletion within the gene: deletions in UTR regions as opposed to coding regions may not be pathogenic.
  • PUBMED: 23498568
    Describes two patients one of whom had an intragenic SOX5 deletion. The de novo deletion was 53Kb and included loss of a protein coding exon of the gene (exon 3, long isoforms, 5'UTR short isoform). Case 1 had diagnoses of moderate intellectual disability, severe expressive language delay, and minor motor impairment.
  • PUBMED: 23220431
    Describes three patients with SOX5 deletions. Patient 1 (de novo) and Patient 3 (no parental follow-up available) had deletions that included SOX5 in addition to other genes. Patient 2 had a de novo intragenic SOX5 deletion involving loss of exon 3 (same exon as reference PMID 23498568), sized at approximately 100Kb. Patient had global developmental delay, cognitive impairment and speech delay.
HI Evidence Comments:
SOX5 is the gene responsible for Lamb-Shaffer syndrome, a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features (OMIM 616803). Intragenic deletions, loss of function mutations and multi-gene deletions have been described in the medical literature, most of which were de novo. (PMID:22290657; PMID:23498568; PMID:23220431; PMID:26111154).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)