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Intellectual disability

Gene: RSF1

Amber List (moderate evidence)
RSF1 (remodeling and spacing factor 1)
EnsemblGeneIds (GRCh38): ENSG00000048649
EnsemblGeneIds (GRCh37): ENSG00000048649
OMIM: 608522, Gene2Phenotype
RSF1 is in 1 panel

1 review

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are more than 3 individuals reported in literature with heterozygous RSF1 variants and syndromic intellectual disability / developmental delay. Based on available evidence, this gene should be promoted to Green for Intellectual disability.
Created: 10 Feb 2026, 4:10 p.m. | Last Modified: 10 Feb 2026, 4:10 p.m.
Panel Version: 9.252
PMID: 41606215 Jost et al., 2026
Report of 11 unrelated individuals harboring de novo or inherited from a symptomatic parent heterozygous variants in RSF1 (only 7 with detailed information). All individuals had an NDD: intellectual disability, autism spectrum disorder or developmental delay. Seq method: Exome seq / Genome Seq. 6 variants de novo, one inherited from mosaic mother. Phenotypic spectrum: ID 4/7 (3 mild and 1 moderate-severe), educational difficulties 7/7, seizures 2/7, ASD 3/7, extremities anomalies 4/7, variable skin defects 5/7, variable ophthalmological anomalies 3/7, and other.

RSF1 is not yet linked to disease in OMIM, ClinGen or Gene2Phenotype (resources accessed 10th Feb 2026).
Sources: Literature
Created: 10 Feb 2026, 4:01 p.m. | Last Modified: 10 Feb 2026, 4:15 p.m.
Panel Version: 9.252

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Created: 10 Feb 2026, 4:01 p.m.
Last Modified: 10 Feb 2026, 4:15 p.m.
Panel version: 9.252

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
Q1_26_promote_green
OMIM
608522
Clinvar variants
Variants in RSF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Feb 2026, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: RSF1 were changed from Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:620489 to neurodevelopmental disorder, MONDO:0700092

10 Feb 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: rsf1 has been classified as Amber List (Moderate Evidence).

10 Feb 2026, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: RSF1 was added gene: RSF1 was added to Intellectual disability. Sources: Literature Q1_26_promote_green tags were added to gene: RSF1. Mode of inheritance for gene: RSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RSF1 were set to 41606215 Phenotypes for gene: RSF1 were set to Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:620489 Review for gene: RSF1 was set to GREEN