OLFML2B

Chr 1

olfactomedin like 2B

NCBI Gene: 25903 ENSG00000162745 UniProt: Q68BL8 OMIM: 621540

The protein is a secreted glycoprotein containing an olfactomedin domain with currently unknown specific function. Mutations cause autosomal recessive developmental and epileptic encephalopathy with progressive microcephaly, affecting the central nervous system with seizures and neurodevelopmental impairment. The gene shows minimal constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected patients.

OMIM ResearchSummary from RefSeq

This gene encodes an olfactomedin domain-containing protein. Most olfactomedin domain-containing proteins are secreted glycoproteins. [provided by RefSeq, Dec 2016]

OMIM ResearchGenerating clinical summary…

LOEUF 1.06

Clinical Summary— OLFML2B

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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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ClinVar Variants

5 unique Pathogenic / Likely Pathogenic· 118 VUS of 141 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.06LOEUF

pLI 0.000

Z-score 1.29

OE 0.77 (0.56–1.06)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.08Z-score

OE missense 0.99 (0.92–1.07)

453 obs / 457.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.77 (0.56–1.06)

0≤0.351.4

Missense OE?0.99 (0.92–1.07)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 27 / 35.3Missense obs/exp: 453 / 457.7Syn Z: 0.37

ClinVar Variant Classifications

141 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic5

VUS118

Likely Benign5

Benign3

Likely Pathogenic

118

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	5	0	0	5
VUS	117	1	0	118
Likely Benign	4	0	1	5
Benign	0	0	3	3
Total	126	1	4	131

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

14 pathogenic / likely-pathogenic (of 18) ClinVar copy-number / structural variants overlap OLFML2B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →