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NM_000288.4(PEX7):c.-45C>T AND Phytanic acid storage disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 13, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000032114.1

Allele description

NM_000288.4(PEX7):c.-45C>T

Gene:
PEX7:peroxisomal biogenesis factor 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q23.3
Genomic location:
Preferred name:
NM_000288.4(PEX7):c.-45C>T
HGVS:
  • NC_000006.12:g.136822621C>T
  • NG_008462.1:g.5042C>T
  • NM_000288.4:c.-45C>TMANE SELECT
  • NC_000006.11:g.137143759C>T
  • NM_000288.3:c.-45C>T
Links:
dbSNP: rs267608252
NCBI 1000 Genomes Browser:
rs267608252
Molecular consequence:
  • NM_000288.4:c.-45C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Phytanic acid storage disease (RDPA)
Synonyms:
HMSN IV; REFSUM DISEASE, CLASSIC; Disorder of cornification 11 (phytanic acid type); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009958; MedGen: C0034960; Orphanet: 773; OMIM: 266500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000055654GeneReviews
no assertion criteria provided
pathologic
(Sep 13, 2012) 		not providedcuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000055654.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Jan 17, 2021