FAM90A26

Chr 4

family with sequence similarity 90 member A26

Also known as: FAM90A26P

I cannot provide a clinical summary for FAM90A26 as no information about protein function, associated diseases, or inheritance patterns was provided in the data. The gene appears to have relatively low constraint scores (pLI: 0.29, LOEUF: 1.89), but without additional clinical or functional information, I cannot make any claims about its role in pediatric neurological conditions.

0
Active trials
0
Pubs (1 yr)
28
P/LP submissions
P/LP missense
1.89
LOEUF
Mechanism
Clinical SummaryFAM90A26
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.
📋
ClinVar Variants
28 unique Pathogenic / Likely Pathogenic of 33 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.89LOEUF
pLI 0.287
Z-score 0.23
OE 0.00 (0.001.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.81Z-score
OE missense 2.47 (0.971.97)
6 obs / 2.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.00 (0.001.89)
00.351.4
Missense OE2.47 (0.971.97)
00.61.4
Synonymous OE2.17
01.21.6
LoF obs/exp: 0 / 0.1Missense obs/exp: 6 / 2.4Syn Z: -1.08

ClinVar Variant Classifications

33 submitted variants in ClinVar

Classification Summary

Pathogenic28
Likely Benign5
28
Pathogenic
5
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
28
Likely Pathogenic
0
VUS
0
Likely Benign
5
Benign
0
Total33

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FAM90A26 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 2 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found