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NM_000147.5(FUCA1):c.237del (p.Trp79fs) AND Fucosidosis

Germline classification:
Pathogenic (1 submission)
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:
RCV001257915.1

Allele description [Variation Report for NM_000147.5(FUCA1):c.237del (p.Trp79fs)]

NM_000147.5(FUCA1):c.237del (p.Trp79fs)

Gene:
FUCA1:alpha-L-fucosidase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_000147.5(FUCA1):c.237del (p.Trp79fs)
HGVS:
  • NC_000001.11:g.23868051del
  • NG_013346.1:g.5320del
  • NM_000147.5:c.237delMANE SELECT
  • NP_000138.2:p.Trp79fs
  • NC_000001.10:g.24194541del
Protein change:
W79fs
Links:
dbSNP: rs1639662557
NCBI 1000 Genomes Browser:
rs1639662557
Molecular consequence:
  • NM_000147.5:c.237del - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
protein truncation [Variation Ontology: 0015]

Condition(s)

Name:
Fucosidosis
Synonyms:
Alpha-l-fucosidase deficiency; Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues
Identifiers:
MONDO: MONDO:0009254; MedGen: C0016788; Orphanet: 349; OMIM: 230000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001433866Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir
no assertion criteria provided
Pathogenicinheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
North African inheritedyes1not providednot providednot providednot providedresearch

Details of each submission

From Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir, SCV001433866.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1North African1not providednot providedresearchnot provided

Description

At eight months of age, the girl was referred to the pediatric department of La Rabta Hospital of Tunis (North of Tunisia) with psychomotor retardation, loss of smile response, and sitting station. Ten months later, she was evaluated for facial dysmorphism, convergent strabismus, gingival hypertrophy of angiokeratomas, and angiokeratomas under the nails. She died due to cardiorespiratory complications when she was six years old.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022