ABHD12
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ABHD12 (HGNC:15868) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
abhydrolase domain containing 12, lysophospholipase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C20orf22
Alias symbols
DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A
%HI
52.8(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.97(Read more about gnomAD LOEUF score)
Cytoband
20p11.21
Genomic Coordinates
GRCh37/hg19: chr20:25275379-25371471 NCBI Ensembl UCSC
GRCh38/hg38: chr20:25294743-25390835 NCBI Ensembl UCSC
MANE Select Transcript
NM_001042472.3 ENST00000339157.10 (Read more about MANE Select)
Function
Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes (PubMed:25290914, PubMed:30237167, PubMed:30420694, PubMed:30720278, PubMed:30643283). Represents a major lysophosphatidylserine lipase in the brain, thereby playing a key role in the central nervous system (By similarity). Also able to hydrolyze oxidized phosphatidylserine; oxidized phosphatidylserine is produced in respo... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-22599
ClinGen Curation ID:
CCID:006602
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:
12/11/2014

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Biallelic loss of function mutations in ABHD12 are associated with autosomal recessive PHARC syndrome (polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa, and early-onset cataracts). Fiskerstrand et al., 2010 (PMID: 20797687) describe 19 affected individuals with homozygous mutations from 4 families. Chen et al., 2013 (PMID: 24027063) describe an individual who is a compound heterozygote for a frameshift and a 59 kilobase deletion of exon 1. Eisenberger et al., 2012 (PMID: 22938382) report a patient who was initially diagnosed with Usher syndrome, type 3 but was found to have ataxia on neurological exam after a homozygous nonsense mutation in ABHD12 was detected. Nishiguchi et al, 2014 (PMID: 24697911), in addition to patients with syndromic retinitis pigmentosa, report one family with ABHD12 mutations and non-syndromic retinitis pigmentosa, illustrating some phenotypic variability.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000020.10) (NC_000020.11)