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NC_000023.11:g.48681722_48688043inv AND Wiskott-Aldrich syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 20, 2015
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:
RCV000791262.1

Allele description [Variation Report for NC_000023.11:g.48681722_48688043inv]

NC_000023.11:g.48681722_48688043inv

Gene:
WAS:WASP actin nucleation promoting factor [Gene - OMIM - HGNC]
Variant type:
Inversion
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NC_000023.11:g.48681722_48688043inv
HGVS:
  • NC_000023.11:g.48681722_48688043inv
  • NG_007877.1:g.2926_9247inv
  • LRG_125:g.2926_9247inv
  • NC_000023.10:g.48540111_48546432inv

Condition(s)

Name:
Wiskott-Aldrich syndrome (WAS)
Synonyms:
Eczema thrombocytopenia immunodeficiency syndrome; Immunodeficiency 2; IMD 2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010518; MedGen: C0043194; Orphanet: 906; OMIM: 301000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000930546San Raffaele Telethon Institute for Gene Therapy, San Raffaele Hospital
no assertion criteria provided
Pathogenic
(Feb 20, 2015) 		maternalclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Lentiviral haemopoietic stem/progenitor cell gene therapy for treatment of Wiskott-Aldrich syndrome: interim results of a non-randomised, open-label, phase 1/2 clinical study.

Ferrua F, Cicalese MP, Galimberti S, Giannelli S, Dionisio F, Barzaghi F, Migliavacca M, Bernardo ME, Calbi V, Assanelli AA, Facchini M, Fossati C, Albertazzi E, Scaramuzza S, Brigida I, Scala S, Basso-Ricci L, Pajno R, Casiraghi M, Canarutto D, Salerio FA, Albert MH, et al.

Lancet Haematol. 2019 May;6(5):e239-e253. doi: 10.1016/S2352-3026(19)30021-3. Epub 2019 Apr 10.

PubMed [citation]
PMID:
30981783
PMCID:
PMC6494976

Details of each submission

From San Raffaele Telethon Institute for Gene Therapy, San Raffaele Hospital, SCV000930546.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections

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

Last Updated: Apr 23, 2022