HYMAI |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- HYMAI (HGNC:5326) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
- HGNC Name
- hydatidiform mole associated and imprinted
- Gene type
- non-coding RNA
- Locus type
- RNA, long non-coding
- Previous symbols
- No previous names found
- Alias symbols
- NCRNA00020
- %HI
- 0(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- Cytoband
- 6q24.2
- Genomic Coordinates
-
GRCh37/hg19: chr6:144326053-144329867 NCBI Ensembl UCSC GRCh38/hg38: chr6:144004916-144008259 NCBI Ensembl UCSC
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-24163
ClinGen Curation ID:
CCID:007309
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Related Links:
Last Evaluated:
09/06/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
This gene, which generates an untranslated mRNA, overlaps a differentially methylated region (DMR) on chromosome 6. Paternally-derived duplications of this region, which also includes ZAC/PLAGL1, account for approximately 40% of cases of transient neonatal diabetes mellitus (TNDM). There is no evidence that mutations in HYMAI result in TNDM, but targeting the region including HYMAI and ZAC/PLAGL1 is appropriate.
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)