NM_000287.3(PEX6):c.1314_1321delGGAGGCCT (p.Glu439Glyfs) AND Heimler syndrome 2

Clinical significance:Pathogenic (Last evaluated: Oct 1, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000240725.1

Allele description

NM_000287.3(PEX6):c.1314_1321delGGAGGCCT (p.Glu439Glyfs)

Gene:
PEX6:peroxisomal biogenesis factor 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000287.3(PEX6):c.1314_1321delGGAGGCCT (p.Glu439Glyfs)
HGVS:
  • NC_000006.12:g.42969714_42969721delAGGCCTCC
  • NG_008370.1:g.14523_14530delGGAGGCCT
  • NM_000287.3:c.1314_1321delGGAGGCCT
  • NP_000278.3:p.Glu439Glyfs
  • NC_000006.11:g.42937452_42937459delAGGCCTCC
  • NM_000287.3:c.1314_1321del8
  • NR_133009.1:n.1407_1414delGGAGGCCT
Links:
dbSNP: rs267608216
NCBI 1000 Genomes Browser:
rs267608216
Allele Frequency:
0.00003(-)
Molecular consequence:
  • NM_000287.3:c.1314_1321delGGAGGCCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_133009.1:n.1407_1414delGGAGGCCT - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Heimler syndrome 2 (HMLR2)
Synonyms:
PEROXISOME BIOGENESIS DISORDER 4C
Identifiers:
MedGen: CN233185; Orphanet: 3220; OMIM: 616617
Age of onset:
Childhood
Prevalence:
<1 / 1 000 000 3220

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000264804Leeds Amelogenesis Imperfecta Research Group,Leeds Universitycriteria provided, single submitter
Pathogenic
(Oct 1, 2015)
germlineresearch

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Northern Europeangermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Rational diagnostic strategy for Zellweger syndrome spectrum patients.

Krause C, Rosewich H, Gärtner J.

Eur J Hum Genet. 2009 Jun;17(6):741-8. doi: 10.1038/ejhg.2008.252. Epub 2009 Jan 14.

PubMed [citation]
PMID:
19142205
PMCID:
PMC2947092

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

Ebberink MS, Kofster J, Wanders RJ, Waterham HR.

Hum Mutat. 2010 Jan;31(1):E1058-70. doi: 10.1002/humu.21153.

PubMed [citation]
PMID:
19877282
See all PubMed Citations (3)

Details of each submission

From Leeds Amelogenesis Imperfecta Research Group,Leeds University, SCV000264804.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Northern Europeannot providednot providednot providedresearch PubMed (3)

Description

Papers report individuals with c.1314_1321delGGAGGCCT variants

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2017