GDAP1

Chr 8

ganglioside induced differentiation associated protein 1

Also known as: CMT4, CMT4A, CMTRIA

NCBI Gene: 54332ENSG00000104381UniProt: Q8TB36

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCharcot-Marie-Tooth disease, demyelinating, type 4A
UniProtCharcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
UniProtCharcot-Marie-Tooth disease, axonal, type 2K
UniProtCharcot-Marie-Tooth disease, recessive intermediate A

Clinical highlights

Gene-disease validity (ClinGen)
Charcot-Marie-Tooth disease · SDDefinitivesufficient evidence for diagnostic panels
0
Active trials
27
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.16
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — GDAP1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.16LOEUF
pLI 0.000
Z-score 1.03
OE 0.74 (0.49–1.16)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.00Z-score
OE missense 0.80 (0.69–0.91)
150 obs / 188.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.74 (0.49–1.16)
0≤0.351.4
Missense OE?0.80 (0.69–0.91)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 14 / 18.8Missense obs/exp: 150 / 188.7Syn Z: -0.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GDAP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients