ROGDI

Chr 16

rogdi atypical leucine zipper

Also known as: KTZS, RAV2, ROGD1

NCBI Gene: 79641ENSG00000067836UniProt: Q9GZN7

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtKohlschuetter-Toenz syndrome

Clinical highlights

Gene-disease validity (ClinGen)
amelocerebrohypohidrotic syndrome · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.42
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — ROGDI
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
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?
1.42LOEUF
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