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NM_000158.4(GBE1):c.783-1G>A AND Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 15, 1996
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:
RCV000002906.4

Allele description [Variation Report for NM_000158.4(GBE1):c.783-1G>A]

NM_000158.4(GBE1):c.783-1G>A

Gene:
GBE1:1,4-alpha-glucan branching enzyme 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p12.2
Genomic location:
Preferred name:
NM_000158.4(GBE1):c.783-1G>A
HGVS:
  • NC_000003.12:g.81642991C>T
  • NG_011810.1:g.123810G>A
  • NG_011810.2:g.123654G>A
  • NM_000158.4:c.783-1G>AMANE SELECT
  • NC_000003.11:g.81692142C>T
  • NM_000158.3:c.783-1G>A
Nucleotide change:
IVSAS, G-A, -1
Links:
OMIM: 607839.0001; dbSNP: rs397515342
NCBI 1000 Genomes Browser:
rs397515342
Molecular consequence:
  • NM_000158.4:c.783-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Synonyms:
Glycogen storage disease IV, congenital neuromuscular; GSD IV, NEUROMUSCULAR FORM, CONGENITAL
Identifiers:
MONDO: MONDO:0017698; MedGen: C1856304

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023064OMIM
no assertion criteria provided
Pathogenic
(Feb 15, 1996) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.

Tang TT, Segura AD, Chen YT, Ricci LM, Franciosi RA, Splaingard ML, Lubinsky MS.

Acta Neuropathol. 1994;87(5):531-6.

PubMed [citation]
PMID:
8059607

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

Bao Y, Kishnani P, Wu JY, Chen YT.

J Clin Invest. 1996 Feb 15;97(4):941-8.

PubMed [citation]
PMID:
8613547
PMCID:
PMC507139

Details of each submission

From OMIM, SCV000023064.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a patient with neonatal hypotonia and cardiomyopathy secondary to glycogen storage disease IV (GSD4; 232500) reported by Tang et al. (1994), Bao et al. (1996) found a 210-bp deletion from nucleotide 873 to 1082 of the GBE1 cDNA. This deletion resulted in a loss of 70 amino acids from the GBE polypeptide (262-331). This deletion, representing the loss of an exon, was caused by an AG-to-AA mutation at a 3-prime acceptor splice site, and abolished GBE1 activity.

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

Last Updated: Sep 29, 2024