RFX6
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
RFX6 (HGNC:21478) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
regulatory factor X6
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
RFXDC1
Alias symbols
MGC33442, dJ955L16.1
%HI
28.8(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.69(Read more about gnomAD LOEUF score)
Cytoband
6q22.1
Genomic Coordinates
GRCh37/hg19: chr6:117198405-117253324 NCBI Ensembl UCSC
GRCh38/hg38: chr6:116877242-116932161 NCBI Ensembl UCSC
MANE Select Transcript
NM_173560.4 ENST00000332958.3 (Read more about MANE Select)
Function
Transcription factor required to direct islet cell differentiation during endocrine pancreas development. Specifically required for the differentiation of 4 of the 5 islet cell types and for the production of insulin (PubMed:20148032, PubMed:25497100). Not required for pancreatic PP (polypeptide-producing) cells differentiation. Acts downstream of NEUROG3 and regulates the transcription factors involved in beta-cell maturation and function, thereby restricting the expression of the beta-cell dif... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36751
ClinGen Curation ID:
CCID:007764
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
09/18/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome Monarch
HI Evidence Comments:
Variants in RFX6 have been reported in individuals with Mitchell-Riley syndrome, an autosomal recessive condition.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)