PLA2G6 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- PLA2G6 (HGNC:9039) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- phospholipase A2 group VI
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2
- %HI
- 35.59(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.86(Read more about gnomAD LOEUF score)
- Cytoband
- 22q13.1
- Genomic Coordinates
-
GRCh37/hg19: chr22:38507502-38577837 NCBI Ensembl UCSC GRCh38/hg38: chr22:38111495-38181830 NCBI Ensembl UCSC - MANE Select Transcript
- NM_003560.4 ENST00000332509.8 (Read more about MANE Select)
- Function
- Calcium-independent phospholipase involved in phospholipid remodeling with implications in cellular membrane homeostasis, mitochondrial integrity and signal transduction. Hydrolyzes the ester bond of the fatty acyl group attached at sn-1 or sn-2 position of phospholipids (phospholipase A1 and A2 activity respectively), producing lysophospholipids that are used in deacylation-reacylation cycles (PubMed:9417066, PubMed:10092647, PubMed:10336645, PubMed:20886109). Hydrolyzes both saturated and unsa... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-36146
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- neurodegeneration with brain iron accumulation Monarch
HI Evidence Comments:
Biallelic variants in the PLA2G6 gene have been associated with the diseases Parkinson disease 14, autosomal recessive, Neurodegeneration with brain iron accumulation 2A, and Neurodegeneration with brain iron accumulation 2B in OMIM. These diseases have significant phenotypic overlap so a more general MONDO term, neurodegeneration with brain iron accumulation (MONDO:0018307), has been selected for this curation.
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000022.10)
(NC_000022.11)