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NC_000009.11:g.(?_214977)_(464219_?)del AND Combined immunodeficiency due to DOCK8 deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 21, 2021
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:
RCV001390235.5

Allele description [Variation Report for NC_000009.11:g.(?_214977)_(464219_?)del]

NC_000009.11:g.(?_214977)_(464219_?)del

Genes:
DOCK8-AS1:DOCK8 antisense RNA 1 [Gene - HGNC]
DOCK8:dedicator of cytokinesis 8 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9p24.3
Genomic location:
Chr9: 214977 - 464219 (on Assembly GRCh37)
Preferred name:
NC_000009.11:g.(?_214977)_(464219_?)del
HGVS:
NC_000009.11:g.(?_214977)_(464219_?)del

Condition(s)

Name:
Combined immunodeficiency due to DOCK8 deficiency (HIES2)
Synonyms:
HIES autosomal recessive; Hyper-IgE recurrent infection syndrome, autosomal recessive; HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009478; MedGen: C4722305; Orphanet: 217390; OMIM: 243700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001591902Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 21, 2021) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity.

Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, Bergmann M, Davis J, Belohradsky BH, Grimbacher B.

J Pediatr. 2004 Jan;144(1):93-9.

PubMed [citation]
PMID:
14722525

Combined immunodeficiency associated with DOCK8 mutations.

Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, Matthews HF, Davis J, Turner ML, Uzel G, Holland SM, Su HC.

N Engl J Med. 2009 Nov 19;361(21):2046-55. doi: 10.1056/NEJMoa0905506. Epub 2009 Sep 23.

PubMed [citation]
PMID:
19776401
PMCID:
PMC2965730
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001591902.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the DOCK8 gene has been identified. Loss-of-function variants in DOCK8 are known to be pathogenic (PMID: 14722525, 19776401). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with DOCK8 deficiency (PMID: 19776401, 20622910, 24797421, 25724123). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024