ROGDI
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ROGDI (HGNC:29478) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
HGNC Name
rogdi atypical leucine zipper
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FLJ22386, ROGD1, RAV2
%HI
47.95(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.65(Read more about gnomAD LOEUF score)
Cytoband
16p13.3
Genomic Coordinates
GRCh37/hg19: chr16:4846969-4852634 NCBI Ensembl UCSC
GRCh38/hg38: chr16:4796968-4802633 NCBI Ensembl UCSC
MANE Select Transcript
NM_024589.3 ENST00000322048.12 (Read more about MANE Select)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36736
ClinGen Curation ID:
CCID:007776
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:
02/12/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • amelocerebrohypohidrotic syndrome Monarch
HI Evidence Comments:
Variants in ROGDI have been described in Kohlschutter-Tonz 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_000016.9) (NC_000016.10)