DDG2P
Gene: RFX7

RFX7 (regulatory factor X7)
EnsemblGeneIds (GRCh38): ENSG00000181827
EnsemblGeneIds (GRCh37): ENSG00000181827
OMIM: 612660, Gene2Phenotype
RFX7 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 RFX7-related neurodevelopmental disorder with autism and other behavioural abnormalities are moderate, monoallelic_autosomal and loss of function (PMIDs: 25363760, 25961944, 33584783, 33658631, 36334883, 39007708). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03746.
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
OMIM:620330.0; MONDO:0957228; RFX7-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

RFX7-related neurodevelopmental disorder with autism and other behavioural abnormalities
MONDO:0957228
OMIM:620330.0

OMIM

612660

Clinvar variants

Variants in RFX7

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: RFX7 was added gene: RFX7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RFX7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RFX7 were set to 39007708; 25961944; 25363760; 33584783; 33658631; 36334883 Phenotypes for gene: RFX7 were set to RFX7-related neurodevelopmental disorder with autism and other behavioural abnormalities; MONDO:0957228; OMIM:620330.0

DDG2P Gene: RFX7