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NM_000444.6(PHEX):c.1572dup (p.Val525fs) AND Familial X-linked hypophosphatemic vitamin D refractory rickets

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 31, 2017
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:
RCV000505422.5

Allele description [Variation Report for NM_000444.6(PHEX):c.1572dup (p.Val525fs)]

NM_000444.6(PHEX):c.1572dup (p.Val525fs)

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.1572dup (p.Val525fs)
HGVS:
  • NC_000023.11:g.22178362dup
  • NG_007563.2:g.150559dup
  • NM_000444.6:c.1572dupMANE SELECT
  • NM_001282754.2:c.1572dup
  • NP_000435.3:p.Val525fs
  • NP_001269683.1:p.Val525fs
  • NC_000023.10:g.22196479dup
  • NC_000023.10:g.22196479dupC
Protein change:
V525fs
Links:
dbSNP: rs1556071138
NCBI 1000 Genomes Browser:
rs1556071138
Molecular consequence:
  • NM_000444.6:c.1572dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282754.2:c.1572dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000599700Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)		Pathogenic
(Aug 31, 2017) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.

Francis F, Strom TM, Hennig S, Böddrich A, Lorenz B, Brandau O, Mohnike KL, Cagnoli M, Steffens C, Klages S, Borzym K, Pohl T, Oudet C, Econs MJ, Rowe PS, Reinhardt R, Meitinger T, Lehrach H.

Genome Res. 1997 Jun;7(6):573-85. No abstract available.

PubMed [citation]
PMID:
9199930

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000599700.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1bloodnot provided1not providednot providednot provided

Last Updated: Jun 23, 2024