NM_001080463.1(DYNC2H1):c.8534delA (p.Asn2845Ilefs) AND Short-rib thoracic dysplasia 3 with or without polydactyly

Clinical significance:Pathogenic (Last evaluated: Apr 1, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000033161.4

Allele description [Variation Report for NM_001080463.1(DYNC2H1):c.8534delA (p.Asn2845Ilefs)]

NM_001080463.1(DYNC2H1):c.8534delA (p.Asn2845Ilefs)

Gene:
DYNC2H1:dynein cytoplasmic 2 heavy chain 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_001080463.1(DYNC2H1):c.8534delA (p.Asn2845Ilefs)
HGVS:
  • NC_000011.10:g.103209955delA
  • NG_016423.1:g.105525delA
  • NM_001080463.1:c.8534delA
  • NP_001073932.1:p.Asn2845Ilefs
  • NC_000011.9:g.103080684delA
Links:
OMIM: 603297.0020; dbSNP: 431905507
NCBI 1000 Genomes Browser:
rs431905507
Molecular consequence:
  • NM_001080463.1:c.8534delA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3)
Synonyms:
Asphyxiating thoracic dystrophy 3; POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I; SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC; See all synonyms [MedGen]
Identifiers:
MedGen: C2751311; Orphanet: 474; Orphanet: 93269; Orphanet: 93271; OMIM: 613091
Age of onset:
Antenatal

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000056943OMIMno assertion criteria providedPathogenic
(Apr 1, 2012)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

El Hokayem J, Huber C, Couvé A, Aziza J, Baujat G, Bouvier R, Cavalcanti DP, Collins FA, Cordier MP, Delezoide AL, Gonzales M, Johnson D, Le Merrer M, Levy-Mozziconacci A, Loget P, Martin-Coignard D, Martinovic J, Mortier GR, Perez MJ, Roume J, Scarano G, Munnich A, et al.

J Med Genet. 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717.

PubMed [citation]
PMID:
22499340

Details of each submission

From OMIM, SCV000056943.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the 1-bp deletion in the DYNC2H1 gene (8534delA) that was found in compound heterozygous state in a fetus with short rib-polydactyly syndrome type III (SRTD3; 613091) by El Hokayem et al. (2012), see 603297.0019.

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

Last Updated: Apr 7, 2017