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Single allele AND PHARC syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 18, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000235052.1

Allele description [Variation Report for Single allele]

Genes:
LOC130065583:ATAC-STARR-seq lymphoblastoid silent region 12749 [Gene]
LOC130065584:ATAC-STARR-seq lymphoblastoid silent region 12750 [Gene]
LOC130065585:ATAC-STARR-seq lymphoblastoid silent region 12751 [Gene]
LOC130065586:ATAC-STARR-seq lymphoblastoid silent region 12752 [Gene]
ABHD12:abhydrolase domain containing 12, lysophospholipase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
20p11.21
Genomic location:
HGVS:
  • NC_000020.11:g.25383675_25397545del
  • NC_000020.10:g.25364310_25378180del

Condition(s)

Name:
PHARC syndrome
Synonyms:
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Identifiers:
MONDO: MONDO:0012984; MedGen: C2675204; Orphanet: 171848; OMIM: 612674

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000292363Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
criteria provided, single submitter

(Fiskerstrand et al. (Am J Hum Genet. 2010))		Pathogenic
(Aug 18, 2015) 		inheritedresearch

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes61not providednot providedyesresearch

Citations

PubMed

Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.

Fiskerstrand T, H'mida-Ben Brahim D, Johansson S, M'zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C, Bredrup C, Assoum M, Tazir M, Klockgether T, Hamri A, Steen VM, Boman H, Bindoff LA, Koenig M, Knappskog PM.

Am J Hum Genet. 2010 Sep 10;87(3):410-7. doi: 10.1016/j.ajhg.2010.08.002.

PubMed [citation]
PMID:
20797687
PMCID:
PMC2933347

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.

Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA.

Genome Med. 2013;5(6):57. doi: 10.1186/gm461.

PubMed [citation]
PMID:
23806086
PMCID:
PMC3706849
See all PubMed Citations (4)

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000292363.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providedyesresearch PubMed (4)

Description

This copy number variation has been previously reported as disease-causing and was identified in a family with PHARC.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided6not provided1not provided

Last Updated: Oct 14, 2023