Intellectual disability syndromic and non-syndromic
Gene: RFX7

RFX7 (regulatory factor X7)
EnsemblGeneIds (GRCh38): ENSG00000181827
EnsemblGeneIds (GRCh37): ENSG00000181827
OMIM: 612660, Gene2Phenotype
RFX7 is in 2 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Report of 38 individuals (from 33 unrelated families) with de novo or inherited loss of function variants in RFX3 (15 families), RFX4 (4 families), and RFX7 (14 families), identified through WES. Individuals share neurobehavioural features including ASD, intellectual disability, and/or ADHD; other frequent features include hypersensitivity to sensory stimuli and sleep problems. RFX3, RFX4, and RFX7 are strongly expressed in developing and adult human brain, and X-box binding motifs as well as RFX ChIP-seq peaks are enriched in the cis-regulatory regions of known ASD risk genes. These genes are potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis.
Sources: Literature
Created: 15 Jun 2021, 4:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ID, ASD, ADHD

Publications

PMID: 33658631

Created: 15 Jun 2021, 4:05 a.m.

Panel version: 0.3864

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Literature

Phenotypes

Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, MIM# 620330

OMIM

612660

Clinvar variants

Variants in RFX7

Penetrance

None

Publications

PMID: 33658631

Panels with this gene

History Filter Activity

23 Apr 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RFX7 were changed from ID, ASD, ADHD to Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, MIM# 620330

15 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rfx7 has been classified as Green List (High Evidence).

15 Jun 2021, Gel status: 3