DISP1 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- DISP1 (HGNC:19711) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- dispatched RND transporter family member 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- DISPA, MGC13130, DKFZP434I0428, MGC16796
- %HI
- 49.82(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.6(Read more about gnomAD LOEUF score)
- Cytoband
- 1q41
- Genomic Coordinates
-
GRCh37/hg19: chr1:222988381-223179337 NCBI Ensembl UCSC GRCh38/hg38: chr1:222815039-223005995 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001377229.1 ENST00000675850.1 (Read more about MANE Select)
- Function
- Functions in hedgehog (Hh) signaling. Regulates the release and extracellular accumulation of cholesterol-modified hedgehog proteins and is hence required for effective production of the Hh signal (By similarity). Synergizes with SCUBE2 to cause an increase in SHH secretion (PubMed:22902404). {ECO:0000250|UniProtKB:Q3TDN0, ECO:0000269|PubMed:22902404}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-36123
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
07/06/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
Roessler et al. (PMID 19184110): This paper describes two truncating mutations (from two unrelated families) in individuals with holoprosencephaly-like features, both were inherited from normal parents.
Rosenfeld (2011) (PMID 20951845): A focal deletion of DISP1 was reported and inherited from a normal parent. Also, based on clinical features present in patients whose 1q41q42 deletions do or do not include DISP1, the authors conclude that deletion of DISP1 is not sufficient to cause syndrome features seen with larger deletions.
Rosenfeld et al (2010) (PMID: 20066439) identified patients who had CGH done who had a deletion of a loci or gene identified as a possibly associated with holoprosencephaly, either based on clinical reports or pathways. None of the patient identified with deletions including DISP1 had holoprosencephaly or a microform. Authors concluded that heterozygous loss is not sufficient for holoprosencephaly phenotypes.
Though 3 independent mutations are described in DISP1, they have all been inherited from a normal parent and the expressivity and penetrance are not well understood.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)