CDRT4

Chr 17ADAR

CMT1A duplicated region transcript 4

ENSG00000239704UniProt: Q8N9R6

Primary Disease Associations & Inheritance

?Neuropathy, inflammatory demyelinatingMIM #139393
AD
Charcot-Marie-Tooth disease, type 1AMIM #118220
AD
Charcot-Marie-Tooth disease, type 1EMIM #118300
AD
Dejerine-Sottas diseaseMIM #145900
ADAR
Neuropathy, recurrent, with pressure palsiesMIM #162500
AD
Roussy-Levy syndromeMIM #180800
AD
0
ClinVar variants
0
Pathogenic / LP
0.10
pLI score
0
Active trials
Clinical Summary— CDRT4
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.10) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.88LOEUF
pLI 0.096
Z-score 0.08
OE 0.92 (0.25–1.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.04Z-score
OE missense 0.99 (0.83–1.18)
87 obs / 87.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.92 (0.25–1.88)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.99 (0.83–1.18)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.02
0≤1.21.6
LoF obs/exp: 1 / 1.1Missense obs/exp: 87 / 87.9Syn Z: -0.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CDRT4 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

?Neuropathy, inflammatory demyelinating

MIM #139393

Molecular basis of disorder known

?Autosomal dominant

Charcot-Marie-Tooth disease, type 1A

MIM #118220

Molecular basis of disorder known

Autosomal dominant

Charcot-Marie-Tooth disease, type 1E

MIM #118300

Molecular basis of disorder known

Autosomal dominant

Dejerine-Sottas disease

MIM #145900

Molecular basis of disorder known

Autosomal dominantAutosomal recessive

Neuropathy, recurrent, with pressure palsies

MIM #162500

Molecular basis of disorder known

Autosomal dominant

Roussy-Levy syndrome

MIM #180800

Molecular basis of disorder known

Autosomal dominant
Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools