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 |
|---|---|---|---|
| RS121908112 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS121908113 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K |
| RS121908115 | Health Risk | 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 |
| RS1240725448 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease axonal type 2K |
| RS139808557 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease |
| RS1413222465 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS1443963090 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K |
| RS145245478 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease, axonal |
| RS148508128 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease |
| RS149804782 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS150989205 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS1586806238 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A |
| RS1808862287 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS1808863345 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A |
| RS1809302381 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS181157785 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease, axonal |
| RS199529910 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease, axonal |
| RS202010117 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS267606842 | Health Risk | 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 |
| RS281865060 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2K |
| RS397515443 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease axonal type 2K |
| RS756121249 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4A |
| RS756461496 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Inborn genetic diseases, Charcot-Marie-Tooth disease |
| RS761332159 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS763427538 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4A |
| RS763802909 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis |
| RS769632836 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease recessive intermediate A |
| RS775622226 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2K |
| RS778105019 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS780828430 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2K |
| RS863224774 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS879254005 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS879254192 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease |
| RS886293648 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease, axonal |
| RS896431562 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS1064793135 | Health Risk | Likely pathogenic | — |
| RS1174933176 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS1359367948 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease axonal type 2K |
| RS1586794308 | Health Risk | Likely pathogenic | — |
| RS1586795440 | Health Risk | Likely pathogenic | — |
| RS1586803187 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS1586804849 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K |
| RS1586807529 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease axonal type 2K |
| RS1808804404 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS1808869772 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1809500885 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease recessive intermediate A |
| RS2131512957 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS2131521557 | Health Risk | Likely pathogenic | — |
| RS2131521760 | Health Risk | Likely pathogenic | — |
| RS2536724594 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |