NM_000288.4(PEX7):c.130+1G>C AND Rhizomelic chondrodysplasia punctata type 1

Clinical significance:Likely pathogenic (Last evaluated: Feb 22, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000409059.1

Allele description [Variation Report for NM_000288.4(PEX7):c.130+1G>C]

NM_000288.4(PEX7):c.130+1G>C

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.130+1G>C
HGVS:
  • NC_000006.12:g.136822796G>C
  • NG_008462.1:g.5217G>C
  • NM_000288.4:c.130+1G>CMANE SELECT
  • NC_000006.11:g.137143934G>C
  • NM_000288.3:c.130+1G>C
Links:
dbSNP: rs267608253
NCBI 1000 Genomes Browser:
rs267608253
Molecular consequence:
  • NM_000288.4:c.130+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Rhizomelic chondrodysplasia punctata type 1 (RCDP1)
Synonyms:
Chondrodysplasia punctata rhizomelic form; Chondrodystrophia calcificans punctata; PEROXISOME BIOGENESIS DISORDER 9
Identifiers:
MONDO: MONDO:0008972; MedGen: C1859133; Orphanet: 177; OMIM: 215100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000485863Counsylcriteria provided, single submitter
Likely pathogenic
(Feb 22, 2016)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

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

Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.

Motley AM, Brites P, Gerez L, Hogenhout E, Haasjes J, Benne R, Tabak HF, Wanders RJ, Waterham HR.

Am J Hum Genet. 2002 Mar;70(3):612-24. Epub 2002 Jan 7.

PubMed [citation]
PMID:
11781871
PMCID:
PMC384941

Details of each submission

From Counsyl, SCV000485863.1

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

Last Updated: Oct 7, 2021

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