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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)