DDG2P
Gene: RFX4

RFX4 (regulatory factor X4)
EnsemblGeneIds (GRCh38): ENSG00000111783
EnsemblGeneIds (GRCh37): ENSG00000111783
OMIM: 603958, Gene2Phenotype
RFX4 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities are moderate, monoallelic_autosomal and undetermined (PMIDs: 25961944, 33658631). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03744.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities; MONDO:0100038

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

MONDO:0100038
RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities

OMIM

603958

Clinvar variants

Variants in RFX4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RFX4 was added gene: RFX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RFX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RFX4 were set to 33658631; 25961944 Phenotypes for gene: RFX4 were set to MONDO:0100038; RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities

DDG2P Gene: RFX4