DISP1 Chromosome 1

Dispatched RND transporter family member 1
12 variants 12 Health Risk

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What This Gene Does
The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A novel segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched and, based on sequence identity to its mouse counterpart, the encoded protein may play an essential role in Hh patterning activities in the early embryo. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Dispatched RND transporter family
Locus Type
gene with protein product
Location
1q41
Ensembl
ENSG00000154309
Associated Conditions (3)
DISP1-related disorder
Microform holoprosencephaly
Holoprosencephaly 7
Key Variants
All Variants (12)
RSID Category Clinical Significance Conditions
RS114523965 Health Risk Conflicting classifications of pathogenicity DISP1-related disorder, DISP1-related disorder
RS140364622 Health Risk Conflicting classifications of pathogenicity
RS141066173 Health Risk Conflicting classifications of pathogenicity
RS143356409 Health Risk Conflicting classifications of pathogenicity
RS1679726949 Health Risk Conflicting classifications of pathogenicity DISP1-related disorder, DISP1-related disorder
RS200321673 Health Risk Conflicting classifications of pathogenicity Microform holoprosencephaly, Microform holoprosencephaly
RS571258186 Health Risk Conflicting classifications of pathogenicity
RS753844157 Health Risk Conflicting classifications of pathogenicity DISP1-related disorder, DISP1-related disorder
RS773799838 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 7, Holoprosencephaly 7
RS1383911599 Health Risk Likely pathogenic
RS2527754384 Health Risk Pathogenic
RS374752363 Health Risk Pathogenic
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