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NM_000444.6(PHEX):c.7_8dup (p.Glu4fs) AND Familial X-linked hypophosphatemic vitamin D refractory rickets

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000990502.1

Allele description [Variation Report for NM_000444.6(PHEX):c.7_8dup (p.Glu4fs)]

NM_000444.6(PHEX):c.7_8dup (p.Glu4fs)

Gene:
PHEX:phosphate regulating endopeptidase X-linked [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp22.11
Genomic location:
Preferred name:
NM_000444.6(PHEX):c.7_8dup (p.Glu4fs)
HGVS:
  • NC_000023.11:g.22033012_22033013dup
  • NG_007563.2:g.5210_5211dup
  • NM_000444.6:c.7_8dupMANE SELECT
  • NM_001282754.2:c.7_8dup
  • NP_000435.3:p.Glu4fs
  • NP_001269683.1:p.Glu4fs
  • NC_000023.10:g.22051129_22051130insGC
  • NC_000023.10:g.22051130_22051131dup
Protein change:
E4fs
Links:
dbSNP: rs1602240890
NCBI 1000 Genomes Browser:
rs1602240890
Molecular consequence:
  • NM_000444.6:c.7_8dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282754.2:c.7_8dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Familial X-linked hypophosphatemic vitamin D refractory rickets (XLHRD)
Synonyms:
HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS; Hypophosphatemic Rickets, X-Linked Dominant; Hypophosphatemia, vitamin D-resistant rickets; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010619; MedGen: C0733682; Orphanet: 89936; OMIM: 307800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001141506Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Pathogenic
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001141506.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024