U.S. flag

An official website of the United States government

NC_000013.10:g.(?_52585403)_(52602726_?)del AND ALG11-congenital disorder of glycosylation

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 15, 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:
RCV001871995.6

Allele description [Variation Report for NC_000013.10:g.(?_52585403)_(52602726_?)del]

NC_000013.10:g.(?_52585403)_(52602726_?)del

Genes:
ALG11:ALG11 alpha-1,2-mannosyltransferase [Gene - OMIM - HGNC]
ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
UTP14C:UTP14C small subunit processome component [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q14.3
Genomic location:
Chr13: 52585403 - 52602726 (on Assembly GRCh37)
Preferred name:
NC_000013.10:g.(?_52585403)_(52602726_?)del
HGVS:
NC_000013.10:g.(?_52585403)_(52602726_?)del

Condition(s)

Name:
ALG11-congenital disorder of glycosylation
Synonyms:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; Congenital disorder of glycosylation type 1P; ALG11-CDG
Identifiers:
MONDO: MONDO:0013349; MedGen: C3150913; Orphanet: 280071; OMIM: 613661

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002229281Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 15, 2021) 		germlineclinical testing

PubMed (2)
[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

ALG11-CDG syndrome: Expanding the phenotype.

Haanpää MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH, Muller EA 2nd.

Am J Med Genet A. 2019 Mar;179(3):498-502. doi: 10.1002/ajmg.a.61046. Epub 2019 Jan 24. Erratum in: Am J Med Genet A. 2020 Dec;182(12):3076. doi: 10.1002/ajmg.a.61869.

PubMed [citation]
PMID:
30676690
PMCID:
PMC6426632

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV002229281.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Congenital disorder of glycosylation type 1 (PMID: 30676690). A gross deletion of the genomic region encompassing the full coding sequence of the ALG11 gene has been identified. Loss-of-function variants in ALG11 are known to be pathogenic (PMID: 30676690). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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

Last Updated: Jun 17, 2024