ROGDI

Chr 16AR

rogdi atypical leucine zipper

Also known as: KTZS, RAV2, ROGD1

NCBI Gene: 79641ENSG00000067836UniProt: Q9GZN7OMIM: 614574

Involved in brain development; neurogenesis; and odontogenesis of dentin-containing tooth. Located in nuclear envelope. Implicated in Kohlschutter-Tonz syndrome. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 1.421 OMIM phenotype
Clinical Summary— ROGDI
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Gene-Disease Validity (ClinGen)
amelocerebrohypohidrotic syndrome · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.42LOEUF
pLI 0.000
Z-score 0.32
OE 0.91 (0.60–1.42)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.32Z-score
OE missense 1.29 (1.15–1.45)
212 obs / 164.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.91 (0.60–1.42)
0≤0.351.4
Missense OE?1.29 (1.15–1.45)
0≤0.61.4
Synonymous OE?1.66
0≤1.21.6
LoF obs/exp: 14 / 15.4Missense obs/exp: 212 / 164.3Syn Z: -4.35

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ROGDI · protein map & ClinVar variants

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

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