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NC_000009.12:g.(?_34646609)_(34650459_?)del AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 6, 2020
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:
RCV000795441.3

Allele description [Variation Report for NC_000009.12:g.(?_34646609)_(34650459_?)del]

NC_000009.12:g.(?_34646609)_(34650459_?)del

Genes:
LOC130001683:ATAC-STARR-seq lymphoblastoid active region 28314 [Gene]
GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NC_000009.12:g.(?_34646609)_(34650459_?)del
HGVS:
  • NC_000009.12:g.(?_34646609)_(34650459_?)del
  • NC_000009.11:g.(?_34646606)_(34650456_?)del

Condition(s)

Name:
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Synonyms:
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY; Galactose-1-phosphate uridyltransferase deficiency; Transferase Deficiency Galactosemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009258; MedGen: C0268151; Orphanet: 352; Orphanet: 79239; OMIM: 230400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000934905Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 6, 2020) 		germlineclinical testing

PubMed (4)
[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

Identification of novel mutations in classical galactosemia.

Bosch AM, Ijlst L, Oostheim W, Mulders J, Bakker HD, Wijburg FA, Wanders RJ, Waterham HR.

Hum Mutat. 2005 May;25(5):502.

PubMed [citation]
PMID:
15841485

Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene.

Berry GT, Leslie N, Reynolds R, Yager CT, Segal S.

Mol Genet Metab. 2001 Apr;72(4):316-21.

PubMed [citation]
PMID:
11286505
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000934905.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant is a gross deletion of the genomic region encompassing the majority of exons 1-11 of the GALT gene, though a small portion of exon 8 is retained. It is expected to result in an absent or disrupted protein product. This particular deletion has been reported in individuals affected with galactosemia (PMID: 17079880), and other deletions of the entire GALT sequence have also been reported in affected individuals (PMID: 15841485, 11286505). Loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). 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