NM_001127671.2(LIFR):c.653dup (p.Glu219fs) AND Stüve-Wiedemann syndrome

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2004)

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:
RCV000348821.2

Allele description [Variation Report for NM_001127671.2(LIFR):c.653dup (p.Glu219fs)]

NM_001127671.2(LIFR):c.653dup (p.Glu219fs)

Gene:
LIFR:LIF receptor subunit alpha [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5p13.1
Genomic location:
Preferred name:
NM_001127671.2(LIFR):c.653dup (p.Glu219fs)
HGVS:
  • NC_000005.10:g.38511873dup
  • NG_011817.1:g.88533dup
  • NM_001127671.2:c.653dupMANE SELECT
  • NM_001364297.2:c.653dup
  • NM_001364298.2:c.653dup
  • NM_002310.6:c.653dup
  • NP_001121143.1:p.Glu219fs
  • NP_001351226.1:p.Glu219fs
  • NP_001351227.1:p.Glu219fs
  • NP_002301.1:p.Glu219fs
  • NC_000005.9:g.38511974_38511975insA
  • NC_000005.9:g.38511975dup
  • NM_001127671.1:c.653dup
  • NM_002310.5:c.653dup
Protein change:
E219fs
Links:
OMIM: 151443.0001; dbSNP: rs886042160
NCBI 1000 Genomes Browser:
rs886042160
Molecular consequence:
  • NM_001127671.2:c.653dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001364297.2:c.653dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001364298.2:c.653dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002310.6:c.653dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Stüve-Wiedemann syndrome
Synonyms:
Stuve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; Schwartz-Jampel syndrome neonatal; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011108; MedGen: C0796176; Orphanet: 3206; OMIM: 601559

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000035810OMIMno assertion criteria providedPathogenic
(Feb 1, 2004)
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

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.

Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V.

Am J Hum Genet. 2004 Feb;74(2):298-305. Epub 2004 Jan 21.

PubMed [citation]
PMID:
14740318
PMCID:
PMC1181927

Details of each submission

From OMIM, SCV000035810.1

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

Description

In 5 Omani and Yemeni families originating from the United Arab Emirates, all with consanguineous parents, Dagoneau et al. (2004) found that children with Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome (601559) had a 1-bp insertion, 653_654insT, in exon 6 of the LIFR gene causing frameshift and a stop 2 codons downstream.

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

Last Updated: Oct 24, 2021

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