• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DDHD1 (HGNC:19714) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
DDHD domain containing 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SPG28
Alias symbols
KIAA1705, PA-PLA1, iPLA1alpha, PAPLA1, iPLA1α
%HI
40.86(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.9(Read more about gnomAD pLI score)
LOEUF
0.34(Read more about gnomAD LOEUF score)
Cytoband
14q22.1
Genomic Coordinates
GRCh37/hg19: chr14:53503473-53620041 NCBI Ensembl UCSC
GRCh38/hg38: chr14:53036755-53153323 NCBI Ensembl UCSC
MANE Select Transcript
NM_001160148.2 ENST00000673822.2 (Read more about MANE Select)
Function
Phospholipase A1 (PLA1) that hydrolyzes ester bonds at the sn-1 position of glycerophospholipids producing a free fatty acid and a lysophospholipid (PubMed:20359546, PubMed:22922100) (Probable). Prefers phosphatidate (1,2-diacyl-sn-glycero-3-phosphate, PA) as substrate in vitro, but can efficiently hydrolyze phosphatidylinositol (1,2-diacyl- sn-glycero-3-phospho-(1D-myo-inositol), PI), as well as a range of other glycerophospholipid substrates such as phosphatidylcholine (1,2- diacyl-sn-glycero-... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33362
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
09/25/2014

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • hereditary spastic paraplegia 28 Monarch
HI Evidence Comments:
Variants in DDHD1 have been associated with spastic paraplegia 28 (OMIM: 614603), an autosomal recessive condition.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000014.8) (NC_000014.9)