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 |
|---|---|---|---|
| RS2536725063 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS2536744805 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS2536749948 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease axonal type 2K |
| RS2536750075 | Health Risk | Likely pathogenic | — |
| RS367790253 | Health Risk | Likely pathogenic | — |
| RS556827873 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS746609932 | Health Risk | Likely pathogenic | Peripheral neuropathy, Peripheral neuropathy |
| RS765346218 | Health Risk | Likely pathogenic | Peripheral neuropathy, Peripheral neuropathy |
| RS773136934 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS786205590 | Health Risk | Likely pathogenic | — |
| RS786205591 | Health Risk | Likely pathogenic | — |
| RS104894075 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease |
| RS104894077 | Health Risk | Pathogenic | Neuropathy, axonal, with vocal cord paresis |
| RS104894078 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease |
| RS104894079 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease |
| RS1060500979 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2K |
| RS1085307665 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A |
| RS1221804567 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS1241632021 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS1243845978 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS1417699318 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS1474390668 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A |
| RS1554548334 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS1586794015 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS1586795216 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K |
| RS1586803063 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2K |
| RS1586803273 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease |
| RS1586807387 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K |
| RS1586807410 | Health Risk | Pathogenic | Neuropathy, axonal, with vocal cord paresis |
| RS1808858148 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease axonal type 2K |
| RS1808867656 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS1808872865 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS1809447471 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS2131493453 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS2131493519 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS2131512540 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS2536724673 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS2536724780 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS2536724799 | Health Risk | Pathogenic | — |
| RS2536741205 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS2536741344 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS2536745244 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS2536745258 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS2536749929 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS2536750938 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS28937906 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease |
| RS375431837 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS397515441 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K |
| RS538389475 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS745663149 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease recessive intermediate A |