NEDFSAB

Chr 15AD

CHD2 adjacent suppressive regulatory RNA

Also known as: LINC01578, NEDFSAB

NCBI Gene: 100507217

Predicted to be involved in several processes, including adipose tissue development; regulation of gene expression; and thymus development. Predicted to be active in chromatin and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalitiesMIM #621012
AD
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— NEDFSAB
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDFSAB?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NEDFSAB · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities

MIM #621012

Molecular basis of disorder known

Autosomal dominant
Clinical Literature
Landmark / reviewRecent case evidence

No publications found for NEDFSAB

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools