NM_000466.3(PEX1):c.2034_2035del (p.His678fs) AND Peroxisome biogenesis disorder 1A (Zellweger)

Clinical significance:Likely pathogenic (Last evaluated: Dec 15, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000409983.3

Allele description [Variation Report for NM_000466.3(PEX1):c.2034_2035del (p.His678fs)]

NM_000466.3(PEX1):c.2034_2035del (p.His678fs)

Gene:
PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_000466.3(PEX1):c.2034_2035del (p.His678fs)
HGVS:
  • NC_000007.14:g.92504768TG[1]
  • NG_008341.2:g.28761CA[1]
  • NM_000466.3:c.2034_2035delMANE SELECT
  • NM_001282677.2:c.1900+1479_1900+1480del
  • NM_001282678.2:c.1410_1411del
  • NP_000457.1:p.His678fs
  • NP_001269607.1:p.His470fs
  • NC_000007.13:g.92134082TG[1]
  • NC_000007.13:g.92134082_92134083del
  • NM_000466.2:c.2034_2035del
  • NM_000466.2:c.2034_2035delCA
Protein change:
H470fs
Links:
dbSNP: rs61750412
NCBI 1000 Genomes Browser:
rs61750412
Molecular consequence:
  • NM_000466.3:c.2034_2035del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282678.2:c.1410_1411del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282677.2:c.1900+1479_1900+1480del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Peroxisome biogenesis disorder 1A (Zellweger) (PBD1A)
Synonyms:
Zellweger leukodystrophy; Peroxisome biogenesis disorder 1a
Identifiers:
MONDO: MONDO:0008953; MedGen: C4721541; Orphanet: 912; OMIM: 214100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000487458Counsylcriteria provided, single submitter
Likely pathogenic
(Dec 15, 2015)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.

Cho SY, Chang YP, Park JY, Park HD, Sohn YB, Park SW, Kim SH, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Paik KH, Jin DK.

Ann Clin Lab Sci. 2011 Spring;41(2):182-7.

PubMed [citation]
PMID:
21844578

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

Ebberink MS, Mooijer PA, Gootjes J, Koster J, Wanders RJ, Waterham HR.

Hum Mutat. 2011 Jan;32(1):59-69. doi: 10.1002/humu.21388.

PubMed [citation]
PMID:
21031596

Details of each submission

From Counsyl, SCV000487458.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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