GDAP1 Chromosome 8
Ganglioside induced differentiation associated protein 1
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What This Gene Does
This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]
Associated Conditions (19)
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease axonal type 2K
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease
axonal
with vocal cord paresis
autosomal recessive
Inborn genetic diseases
Lung cancer
GDAP1-related disorder
Peripheral neuropathy
Neuropathy
Elevated circulating alkaline phosphatase concentration
Polyneuropathy
Peripheral axonal neuropathy
Elevated circulating creatine kinase concentration
Sensory neuropathy
Charcot-Marie-Tooth disease type 4
Key Variants
RS121908112
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
Health Risk
RS121908113
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K
Health Risk
RS121908115
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2K, Autosomal dominant Charcot-Marie-Tooth disease type 2K, Charcot-Marie-Tooth disease axonal type 2K
Health Risk
RS1240725448
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease axonal type 2K
Health Risk
RS139808557
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease
Health Risk
RS1413222465
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
Health Risk
RS1443963090
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K
Health Risk
RS145245478
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease, axonal
Health Risk
RS148508128
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease
Health Risk
RS149804782
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
RS150989205
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
Health Risk
RS1586806238
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A
Health Risk
All Variants (123)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS751986220 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS770658701 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis |
| RS778547659 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K |
| RS779894269 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS864622501 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease recessive intermediate A |
| RS104894076 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS104894080 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A |
| RS1060500978 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease recessive intermediate A |
| RS1169652308 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS1183978180 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4A, Inborn genetic diseases, Charcot-Marie-Tooth disease |
| RS121908114 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease |
| RS1323153568 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K |
| RS1370011538 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A, GDAP1-related disorder |
| RS1476856429 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A, axonal |
| RS1554547986 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A |
| RS2536722528 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease, axonal |
| RS397515432 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease |
| RS397515442 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease |
| RS538412810 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease, Peripheral neuropathy |
| RS761035569 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease |
| RS770501034 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A |
| RS886041386 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K |
| RS936681187 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |