DDG2P
Gene: RFX3

RFX3 (regulatory factor X3)
EnsemblGeneIds (GRCh38): ENSG00000080298
EnsemblGeneIds (GRCh37): ENSG00000080298
OMIM: 601337, Gene2Phenotype
RFX3 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 RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities are definitive, monoallelic_autosomal and loss of function (PMIDs: 21792059, 25844147, 27525107, 31981491, 33658631, 35982159, 37717291). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03741.
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
MONDO:0100038; RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities

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

RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities
MONDO:0100038

OMIM

601337

Clinvar variants

Variants in RFX3

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: RFX3 was added gene: RFX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RFX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RFX3 were set to 27525107; 37717291; 33658631; 21792059; 35982159; 25844147; 31981491 Phenotypes for gene: RFX3 were set to RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities; MONDO:0100038

DDG2P Gene: RFX3