FSD1L

Chr 9

fibronectin type III and SPRY domain containing 1 like

Also known as: CCDC10, CSDUFD1, FSD1CL, FSD1NL, MIR1

I cannot write a clinical summary for FSD1L based on the provided information. The data only includes predicted subcellular localization and constraint metrics, but lacks essential clinical information such as the protein's specific function, associated diseases, inheritance patterns, or pathogenic mechanisms needed for a pediatric neurogenetics portal.

OMIMResearchSummary from RefSeq, Mechanism
LOFmechanismLOEUF 0.48
Clinical SummaryFSD1L
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.24) despite low pLI — interpret in context.
📋
ClinVar Variants
9 unique Pathogenic / Likely Pathogenic of 9 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.48LOEUF
pLI 0.234
Z-score 3.50
OE 0.24 (0.130.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.52Z-score
OE missense 0.71 (0.620.81)
156 obs / 219.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.24 (0.130.48)
00.351.4
Missense OE0.71 (0.620.81)
00.61.4
Synonymous OE0.76
01.21.6
LoF obs/exp: 6 / 24.8Missense obs/exp: 156 / 219.4Syn Z: 1.61
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
moderateFSD1L-related neurodevelopmental disorder with hydrocephalus and corpus callosum anomaliesLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.7130th %ile
GOF
0.6346th %ile
LOF
0.3454th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

9 submitted variants in ClinVar

Classification Summary

Pathogenic9
9
Pathogenic

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
9
Likely Pathogenic
0
VUS
0
Likely Benign
0
Benign
0
Total9

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FSD1L · 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 →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC