ClinGen Dosage Sensitivity Curation Page
SLC35D1
- Curation Status: Complete
- id: ISCA-30488
- Date last evaluated: 2016-04-11
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/23169
- OMIM: https://omim.org/entry/610804
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.002
Select assembly:
(NC_000001.10)
(NC_000001.11)
- Haploinsufficiency score: Gene associated with autosomal recessive phenotype
- Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
- Haploinsufficiency Phenotype: SCHNECKENBECKEN DYSPLASIA; SHNKND
| PubMed ID | Description |
|---|---|
| 19508970 | SLC35D1 is responsible for Schneckenbecken dysplasia (SBD), a lethal, autosomal recessive disorder. The authors searched for SLC35D1 mutations in five families with SBD and 15 patients with other SSDD group diseases, including achodrogenesis type 1A, spondylometaphyseal dysplasia Sedaghatian type and fibrochondrogenesis. They identified four novel mutations, c.319C>T (p.R107X), IVS4+3A>G, a 4959-bp deletion causing the removal of exon 7 (p.R178fsX15), and c.193A>C (p. T65P), in three SBD families. Exon trapping assay showed IVS4+3A>G caused skipping of exon 4 and a frameshift (p.L109fsX18). Yeast complementation assay showed the T65P mutant protein lost the transporter activity of nucleotide sugars. Patients were either homozygotes or compound heterozygotes for pathogenic mutations in the gene. |
Haploinsufficiency phenotype comments:
There is currently no evidence to suggest that haploinsufficiency of SLC35D1 is associated with an abnormal phenotype.
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity