Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: RFX4

Green List (high evidence)

RFX4 (regulatory factor X4)
EnsemblGeneIds (GRCh38): ENSG00000111783
EnsemblGeneIds (GRCh37): ENSG00000111783
OMIM: 603958, Gene2Phenotype
RFX4 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ID, ASD, ADHD
OMIM
603958
Clinvar variants
Variants in RFX4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rfx4 has been classified as Green List (High Evidence).

15 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: rfx4 has been classified as Green List (High Evidence).

15 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: rfx4 has been classified as Green List (High Evidence).

15 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: rfx4 has been classified as Green List (High Evidence).

15 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: rfx4 has been classified as Green List (High Evidence).

15 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: rfx4 has been classified as Green List (High Evidence).

15 Jun 2021, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: RFX4 was added gene: RFX4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: RFX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RFX4 were set to PMID: 33658631 Phenotypes for gene: RFX4 were set to ID, ASD, ADHD Review for gene: RFX4 was set to GREEN