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NC_000009.12:g.35658020_35658037dup AND Metaphyseal chondrodysplasia, McKusick type

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 6, 2017
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:
RCV000668083.8

Allele description [Variation Report for NC_000009.12:g.35658020_35658037dup]

NC_000009.12:g.35658020_35658037dup

Gene:
RMRP:RNA component of mitochondrial RNA processing endoribonuclease [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NC_000009.12:g.35658020_35658037dup
HGVS:
  • NC_000009.12:g.35658020_35658037dup
  • NG_017041.1:g.4983_5000dup
  • NG_033120.1:g.4731_4748dup
  • NG_116211.1:g.556_573dup
  • LRG_163t1:n.-18_-1dup
  • LRG_163:g.4983_5000dup
  • NC_000009.11:g.35658015_35658016insACGTCCTCAGCTTCACAG
  • NC_000009.11:g.35658017_35658034dup
  • NR_003051.3:n.-18_-1dup
Links:
dbSNP: rs1554651396
NCBI 1000 Genomes Browser:
rs1554651396

Condition(s)

Name:
Metaphyseal chondrodysplasia, McKusick type (CHH)
Synonyms:
Cartilage-Hair Hypoplasia
Identifiers:
MONDO: MONDO:0009595; MedGen: C0220748; Orphanet: 175; OMIM: 250250

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000792628Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Jul 6, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.

Ridanpää M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Pruijn G, Salmela R, Rockas S, Mäkitie O, Kaitila I, de la Chapelle A.

Cell. 2001 Jan 26;104(2):195-203.

PubMed [citation]
PMID:
11207361

Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.

Nakashima E, Tran JR, Welting TJ, Pruijn GJ, Hirose Y, Nishimura G, Ohashi H, Schurman SH, Cheng J, Candotti F, Nagaraja R, Ikegawa S, Schlessinger D.

Am J Med Genet A. 2007 Nov 15;143A(22):2675-81.

PubMed [citation]
PMID:
17937437
See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000792628.1

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

Last Updated: Oct 13, 2024