NM_000153.4(GALC):c.582+5G>A AND Galactosylceramide beta-galactosidase deficiency

Clinical significance:Uncertain significance (Last evaluated: May 15, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000666914.1

Allele description [Variation Report for NM_000153.4(GALC):c.582+5G>A]

NM_000153.4(GALC):c.582+5G>A

Gene:
GALC:galactosylceramidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q31.3
Genomic location:
Preferred name:
NM_000153.4(GALC):c.582+5G>A
HGVS:
  • NC_000014.9:g.87984389C>T
  • NG_011853.2:g.14175G>A
  • NM_000153.4:c.582+5G>AMANE SELECT
  • NM_001201401.1:c.513+5G>A
  • NM_001201402.1:c.504+5G>A
  • NC_000014.8:g.88450733C>T
  • NM_000153.3:c.582+5G>A
Links:
dbSNP: rs757016859
NCBI 1000 Genomes Browser:
rs757016859
Molecular consequence:
  • NM_000153.4:c.582+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001201401.1:c.513+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001201402.1:c.504+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Galactosylceramide beta-galactosidase deficiency
Synonyms:
Krabbe leukodystrophy; Globoid cell leukoencephalopathy; Galactocerebrosidase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009499; MedGen: C0023521; Orphanet: 487; OMIM: 245200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000791286Counsylcriteria provided, single submitter
Uncertain significance
(May 15, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Newborn screening for Krabbe disease in New York State: the first eight years' experience.

Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, et al.

Genet Med. 2016 Mar;18(3):239-48. doi: 10.1038/gim.2015.211. Epub 2016 Jan 21.

PubMed [citation]
PMID:
26795590

Details of each submission

From Counsyl, SCV000791286.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2020

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