GOLGA2P2Y
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GOLGA2P2Y (HGNC:16479) HGNC Entrez Ensembl OMIM GeneReviews LOVD LSDB ClinVar
HGNC Name
GOLGA2 pseudogene 2 Y-linked
Gene type
pseudogene
Locus type
pseudogene
Previous symbols
GOLGA2LY1, GOLGA2P2
Alias symbols
No aliases found
%HI
0(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
Cytoband
Yq11.23
Genomic Coordinates
GRCh37/hg19: chrY:26356114-26360978 NCBI Ensembl UCSC
GRCh38/hg38: chrY:24209967-24214831 NCBI Ensembl UCSC

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-35032
ClinGen Curation ID:
CCID:007232
Curation Status:
Not Reviewable
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
GOLGA2P2Y is located within the AZFc region that causes spermatogenic failure when deleted. However, the clinical effect of a focal deletion of GOLGA2P2Y is unknown. Repping et al. (2004) report a 1.8 Mb deletion, designated b2/b3, which is found on the geneological branch N which is a Y chromosome branch that is found through Eurasia with high frequency. This b2/b3 deletion contains one copy of GOLGA2P2Y, rather than two, but does not appear to affect spermatogenesis. However, the more common gr/gr deletion, which is of similar size and gene content, also contains only one copy of GOLGA2P2Y and this deletion is associated with spermatogenic failure. This phenotype would not be an appropriate indication for chromosome microarray.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000024.9) (NC_000024.10)