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

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

Tags

gene-checked

OMIM

603958

Clinvar variants

Variants in RFX4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

19 Mar 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: RFX4.

19 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RFX4 were changed from MONDO:0100038; RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities to complex neurodevelopmental disorder, MONDO:0100038; RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities

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