SALL4
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SALL4 (HGNC:15924) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
spalt like transcription factor 4
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
dJ1112F19.1, ZNF797
%HI
38.01(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.18(Read more about gnomAD LOEUF score)
Cytoband
20q13.2
Genomic Coordinates
GRCh37/hg19: chr20:50398870-50419060 NCBI Ensembl UCSC
GRCh38/hg38: chr20:51782331-51802521 NCBI Ensembl UCSC
MANE Select Transcript
NM_020436.5 ENST00000217086.9 (Read more about MANE Select)
Function
Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells. {ECO:0000269|PubMed:23012367}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19618
ClinGen Curation ID:
CCID:007800
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
01/11/2021

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 16086360
    Kohlhase J et al. (2005) described 17 previously published and 5 novel pathogenic SALL4 variants associated with disease in patients with acro-renal-ocular syndrome or Duane radial-ray syndrome (i.e., Okihiro syndrome). All the described SALL4 variants were loss of function (8 nonsense and 14 frameshift).
  • PUBMED: 30552424
    Vanlerberghe C et al. (2019) sequenced SALL4 in patients originally diagnosed with Holt-Oram syndrome but lacking causative TBX5 variants. Eight patients were found to carry loss-of-function (8 frameshift and 2 nonsense) SALL4 variants and were thus re-diagnosed with Duane-radial ray syndrome (i.e., Okihiro syndrome).
  • PUBMED: 17256792
    Paradisi I and Arias S (2007) investigated a large multigenerational family with autosomal dominant IVIC syndrome. A frameshift variant in SALL4 was identified that segregated with disease among the 29 family members assessed (14 affected and 15 unaffected).
HI Evidence Comments:
SALL4 variants are associated with Duane radial-ray syndrome (i.e., Okihiro syndrome; OMIM # 607343), IVIC syndrome (OMIM # 147750), and acro-renal-ocular syndrome (AROS), as well as potentially Holt-Oram syndrome (HOS; OMIM # 142900; associated with pathogenic TBX5 variants). These phenotypes have overlapping features and display intra- and inter-family variability. For more information, see Borozdin W et al. (2004), Kohlhase et al. (2005), and GeneReviews (PMID: 15286162, 16086360, 20301547). Additional evidence includes: PMID: 15286162 Borozdin W et al. (2004) sequenced exons 1-4 of SALL4 in genomic DNA obtained from 5 families with SALL4-related disorders, including 2 families with acro-renal-ocular syndrome. Loss-of-function SALL4 variants (2 nonsense and 5 frameshift) were found to segregate with disease in the members available for testing in all 5 families. PMID: 12395297 Al-Baradie R et al. (2002) sequenced 4 exons of SALL4 in 3 families presenting with multi-generational Duane radial-ray syndrome. Disease within all three of these families was found to segregate with loss-of-function SALL4 variants, 2 of which were frameshift and 1 was nonsense. Additional publications describing SALL4 loss-of-function variants associated with SALL4-related disorders include Kohlhase et al. (2002), Borozdin W et al. (2004), and Kohlhase et al. (2005) (PMID: 12843316, 15342710, 16086360).

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000020.10) (NC_000020.11)