DDHD2 Chromosome 8
DDHD domain containing 2
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What This Gene Does
This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Gene Info
Gene Group
Sterile alpha motif domain containing
Locus Type
gene with protein product
Location
8p11.23
Ensembl
ENSG00000085788
Associated Conditions (7)
Hereditary spastic paraplegia 54
Hereditary spastic paraplegia
Inborn genetic diseases
Senior-Loken syndrome 6
Global developmental delay
Obesity
Generalized epilepsy
Key Variants
RS137874590
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 54, Hereditary spastic paraplegia, Hereditary spastic paraplegia 54
Health Risk
RS1380005347
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
Health Risk
RS139004425
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 54, Hereditary spastic paraplegia, Hereditary spastic paraplegia 54
Health Risk
RS141644282
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 54, Hereditary spastic paraplegia, Inborn genetic diseases
Health Risk
RS200249745
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
Health Risk
RS201121892
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia 54, Hereditary spastic paraplegia
Health Risk
RS201656753
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 54, Inborn genetic diseases, Hereditary spastic paraplegia 54
Health Risk
RS377293194
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
Health Risk
RS544728429
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
Health Risk
RS560050475
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
Health Risk
RS767497993
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 54, Inborn genetic diseases, Hereditary spastic paraplegia 54
Health Risk
RS778628163
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 54, Hereditary spastic paraplegia, Hereditary spastic paraplegia 54
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137874590 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia, Hereditary spastic paraplegia 54 |
| RS1380005347 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS139004425 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia, Hereditary spastic paraplegia 54 |
| RS141644282 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia, Inborn genetic diseases |
| RS200249745 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS201121892 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 54, Hereditary spastic paraplegia |
| RS201656753 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 54, Inborn genetic diseases, Hereditary spastic paraplegia 54 |
| RS377293194 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS544728429 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS560050475 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS767497993 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 54, Inborn genetic diseases, Hereditary spastic paraplegia 54 |
| RS778628163 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia, Hereditary spastic paraplegia 54 |
| RS797045521 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS1424300803 | Health Risk | Likely pathogenic | — |
| RS1554511216 | Health Risk | Likely pathogenic | — |
| RS1554515767 | Health Risk | Likely pathogenic | — |
| RS2130822605 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS2486922970 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS2486993028 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS2486999855 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS377024163 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS398122837 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS746455223 | Health Risk | Likely pathogenic | — |
| RS753950471 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS772199158 | Health Risk | Likely pathogenic | — |
| RS1249841130 | Health Risk | Pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS1312739762 | Health Risk | Pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS1554510884 | Health Risk | Pathogenic | — |
| RS1563312884 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1585774873 | Health Risk | Pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS1805323000 | Health Risk | Pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS201258800 | Health Risk | Pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS2130848885 | Health Risk | Pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS2486749357 | Health Risk | Pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS2486793601 | Health Risk | Pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS2486857105 | Health Risk | Pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS373856119 | Health Risk | Pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS755267771 | Health Risk | Pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS867389476 | Health Risk | Pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS886037659 | Health Risk | Pathogenic | Hereditary spastic paraplegia 54, Senior-Loken syndrome 6, Hereditary spastic paraplegia 54 |
| RS939799061 | Health Risk | Pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS1475369039 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS375168720 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 54, Global developmental delay, Obesity |
| RS398122826 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS764638887 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia 54, Hereditary spastic paraplegia |