SPRED1 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SPRED1 (HGNC:20249) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- sprouty related EVH1 domain containing 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- FLJ33903, PPP1R147, SPRED-1
- %HI
- 13.12(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.98(Read more about gnomAD pLI score)
- LOEUF
- 0.5(Read more about gnomAD LOEUF score)
- Cytoband
- 15q14
- Genomic Coordinates
-
GRCh37/hg19: chr15:38545037-38649450 NCBI Ensembl UCSC GRCh38/hg38: chr15:38252836-38357249 NCBI Ensembl UCSC - MANE Select Transcript
- NM_152594.3 ENST00000299084.9 (Read more about MANE Select)
- Function
- Tyrosine kinase substrate that inhibits growth-factor- mediated activation of MAP kinase (By similarity). Negatively regulates hematopoiesis of bone marrow (By similarity). Inhibits fibroblast growth factor (FGF)-induced retinal lens fiber differentiation, probably by inhibiting FGF-mediated phosphorylation of ERK1/2 (By similarity). Attenuates actin stress fiber formation via inhibition of TESK1-mediated phosphorylation of cofilin (PubMed:18216281). Inhibits TGFB-induced epithelial-to-mesenchym... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-11258
ClinGen Curation ID:
CCID:007936
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency
(3)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
03/14/2013
Haploinsufficiency (HI) Score Details
HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- Legius syndrome Monarch
HI Evidence:
-
PUBMED:
17704776
Brems et al (2007) reported loss-of-function autosomal dominant mutations in SPRED1 associated with a neurofibromatosis 1-like phenotype, including several nonsense, two frameshift, and a splice donor site mutation.
-
PUBMED:
19443465
Spurlock et al (2009) screened 85 patients with a mild NF1-like phenotype (Legius syndrome) for SPRED1 mutations. SPRED1 mutations were identified in 6 cases; 5 were novel and included 3 nonsense (R16X, E73X, R262X), 2 frameshift (c.1048_c1049 delGG, c.149_1152del 4 bp), and a single missense mutation (V44D). Short direct or inverted repeats detected immediately adjacent to some SPRED1 mutations may have led to the formation of the microdeletions and base pair substitutions
HI Evidence Comments:
Legius syndrome is an autosomal dominant disorder that shows some similarities to neurofibromatosis type I (NF1; 162200), which is caused by mutation in the neurofibromin gene; however, Legius syndrome is less severe. Individuals with Legius syndrome typically have multiple cafe-au-lait spots, sometimes associated with skin fold freckling, variable dysmorphic features such as hypertelorism or macrocephaly, lipomas, and mild learning disabilities or attention problems. Legius syndrome is not associated with neurofibromas, optic gliomas, Lisch nodules, or tumor predisposition. See GeneReviews for a complete clinical overview. For a recent review of loss of function mutations described and a SPRED1 mutation database, see Brems et al (2012, PMID: 22753041).
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000015.9)
(NC_000015.10)