ClinGen Dosage Sensitivity Curation Page
SALL4
- Curation Status: Complete
- id: ISCA-19618
- Date last evaluated: 2012-04-19
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about SALL4 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/57167
- OMIM: https://omim.org/entry/607343
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1373/?term=SALL4
- ClinGen Haploinsufficiency Score: 3
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.999
Select assembly:
(NC_000020.10)
(NC_000020.11)
- Haploinsufficiency score: 3
- Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity
- Haploinsufficiency Phenotype: DUANE-RADIAL RAY SYNDROME; DRRS
| PubMed ID | Description |
|---|---|
| 12843316 | Kohlhase et al. (2002) identified a heterozygous C-T transition in the SALL4 gene in affected individuals of a 3 generation family with Duane-radial ray syndrome. This mutation results in a gln652-to-ter (Q652X) mutation. The resultant protein was predicted to lack the third (carboxyterminal) double zinc finger domain. In another 3 generation family with Duane-radial ray syndrome, Kohlhase et al. (2002) identifed a heterozygous 1-basepair deletion (1053G) in affected members. The mutation was predicted to result in a truncated protein lacking all 3 double zinc finger motifs. |
| 12395297 | Al-Baradie et al. (2002) identified a heterozygous C-to-T transition in exon 3 of the SALL4 gene in affected members of a family with Duane-radial ray syndrome. This mutation results in an arg-to-ter (R865X) substitution. |
Haploinsufficiency phenotype comments:
Mutations in SALL4 have also been associated with acro-renal-ocular syndrome and Holt-Oram syndrome (see GeneReviews for additional information).
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity