Data Sharing Resources
GenomeConnect
Events
Contact
Toggle navigation
Navigation
Get Started
About Us
Curation Activities
Gene-Disease Validity
Training Materials
Browse Curations
Variant Pathogenicity
Training Materials
Browse Curations
Clinical Actionability
Training Materials
Browse Curations
Dosage Sensitivity
Training Materials
Browse Curations
Browse All ClinGen's Curated Genes
Working Groups
Expert Panels
Documents
& Announcements
Tools
Search:
Gene
Gene
Disease
Variant
Website Search
Browse Curations
About ClinGen's Curation Activities
Browse
All Curated Genes
Browse
Gene-Disease Validity
Browse
Dosage Sensitivity
Browse
Clinical Actionability
Browse
Variant Pathogenicity
SLURP1
Name
SLURP1
HGNC ID
HGNC:18746
Cytogenetic Location
8q24.3
Haploinsufficiency
Associated with Autosomal Recessive Phenotype
Triplosensitivity
No Evidence
External Resources
View external resources
ClinVar Variants
View ClinVar Variants
GeneReviews®
View GeneReviews
ClinGen's Curation Summaries
External Genomic Resources
ClinVar Variants
SLURP1
-
mal de Meleda
| MONDO:0009552
Curated by
Classification
Date
Report
Dosage Sensitivity
Gene Associated with Autosomal Recessive Phenotype
06/08/2017
View report
SLURP1
Curated by
Classification
Date
Report
Dosage Sensitivity
Gene Associated with Autosomal Recessive Phenotype
06/08/2017
View report
No Evidence for Triplosensitivity
06/08/2017
View report
Send Feedback