GLDN Chromosome 15
Gliomedin
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What This Gene Does
This gene encodes a protein that contains olfactomedin-like and collagen-like domains. The encoded protein, which exists in both transmembrane and secreted forms, promotes formation of the nodes of Ranvier in the peripheral nervous system. Mutations in this gene cause a form of lethal congenital contracture syndrome in human patients. Autoantibodies to the encoded protein have been identified in sera form patients with multifocal motor neuropathy. [provided by RefSeq, May 2017]
Gene Info
Gene Group
Olfactomedin domain containing
Locus Type
gene with protein product
Location
15q21.2
Ensembl
ENSG00000186417
Associated Conditions (11)
GLDN-related disorder
Lethal congenital contracture syndrome 11
Aromatase deficiency
Inborn genetic diseases
Fetal akinesia deformation sequence 1
Polyhydramnios
Multiple joint contractures
Arthrogryposis multiplex congenita
Breathing dysregulation
Congenital contracture
Flexion contracture
Key Variants
RS186935606
Conflicting classifications of pathogenicity
GLDN-related disorder, GLDN-related disorder
Health Risk
RS200764654
Conflicting classifications of pathogenicity
Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
Health Risk
RS779432560
Conflicting classifications of pathogenicity
Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11, Aromatase deficiency
Health Risk
RS781313856
Conflicting classifications of pathogenicity
Lethal congenital contracture syndrome 11, Inborn genetic diseases, Lethal congenital contracture syndrome 11
Health Risk
RS1016861963
Likely pathogenic
Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
Health Risk
RS1412227116
Likely pathogenic
Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
Health Risk
RS141816048
Likely pathogenic
Health Risk
RS149543159
Likely pathogenic
GLDN-related disorder, GLDN-related disorder
Health Risk
RS1595795307
Likely pathogenic
Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
Health Risk
RS1595795343
Likely pathogenic
Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
Health Risk
RS199538582
Likely pathogenic
Health Risk
RS2037658180
Likely pathogenic
Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS186935606 | Health Risk | Conflicting classifications of pathogenicity | GLDN-related disorder, GLDN-related disorder |
| RS200764654 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11 |
| RS779432560 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11, Aromatase deficiency |
| RS781313856 | Health Risk | Conflicting classifications of pathogenicity | Lethal congenital contracture syndrome 11, Inborn genetic diseases, Lethal congenital contracture syndrome 11 |
| RS1016861963 | Health Risk | Likely pathogenic | Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11 |
| RS1412227116 | Health Risk | Likely pathogenic | Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11 |
| RS141816048 | Health Risk | Likely pathogenic | — |
| RS149543159 | Health Risk | Likely pathogenic | GLDN-related disorder, GLDN-related disorder |
| RS1595795307 | Health Risk | Likely pathogenic | Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11 |
| RS1595795343 | Health Risk | Likely pathogenic | Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11 |
| RS199538582 | Health Risk | Likely pathogenic | — |
| RS2037658180 | Health Risk | Likely pathogenic | Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11 |
| RS2038250738 | Health Risk | Likely pathogenic | Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11 |
| RS2542882268 | Health Risk | Likely pathogenic | Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11 |
| RS2542883131 | Health Risk | Likely pathogenic | Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11 |
| RS368085516 | Health Risk | Likely pathogenic | Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11 |
| RS376573993 | Health Risk | Likely pathogenic | Fetal akinesia deformation sequence 1, Fetal akinesia deformation sequence 1 |
| RS764239923 | Health Risk | Likely pathogenic | Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11 |
| RS867806350 | Health Risk | Likely pathogenic | Polyhydramnios, Multiple joint contractures, Polyhydramnios |
| RS1555401209 | Health Risk | Pathogenic | — |
| RS539703340 | Health Risk | Pathogenic | Lethal congenital contracture syndrome 11, Polyhydramnios, Multiple joint contractures |
| RS886041056 | Health Risk | Pathogenic | Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11 |
| RS886041057 | Health Risk | Pathogenic | Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11 |
| RS750803388 | Health Risk | Pathogenic/Likely pathogenic | Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita, Lethal congenital contracture syndrome 11 |
| RS755420151 | Health Risk | Pathogenic/Likely pathogenic | Lethal congenital contracture syndrome 11, GLDN-related disorder, Lethal congenital contracture syndrome 11 |
| RS775011495 | Health Risk | Pathogenic/Likely pathogenic | Lethal congenital contracture syndrome 11, Breathing dysregulation, Congenital contracture |