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NM_000466.3(PEX1):c.2926+1G>A AND Peroxisome biogenesis disorder 1A (Zellweger)

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 22, 2014
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:
RCV000169032.6

Allele description

NM_000466.3(PEX1):c.2926+1G>A

Genes:
GATAD1:GATA zinc finger domain containing 1 [Gene - OMIM - HGNC]
PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_000466.3(PEX1):c.2926+1G>A
HGVS:
  • NC_000007.14:g.92494486C>T
  • NG_008341.1:g.39046G>A
  • NG_008341.2:g.39046G>A
  • NM_000466.3:c.2926+1G>AMANE SELECT
  • NM_001282677.2:c.2755+1G>A
  • NM_001282678.2:c.2302+1G>A
  • NC_000007.13:g.92123800C>T
  • NM_000466.2:c.2926+1G>A
Links:
dbSNP: rs267608179
NCBI 1000 Genomes Browser:
rs267608179
Molecular consequence:
  • NM_000466.3:c.2926+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001282677.2:c.2755+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001282678.2:c.2302+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000220182Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Mar 22, 2014) 		unknownliterature only

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

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.

Portsteffen H, Beyer A, Becker E, Epplen C, Pawlak A, Kunau WH, Dodt G.

Nat Genet. 1997 Dec;17(4):449-52.

PubMed [citation]
PMID:
9398848

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
See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000220182.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 19, 2022