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GRCh38/hg38 Xp22.31(chrX:6989414-7926139)x0 AND X-linked ichthyosis with steryl-sulfatase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 22, 2024
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:
RCV003881710.1

Allele description [Variation Report for GRCh38/hg38 Xp22.31(chrX:6989414-7926139)x0]

GRCh38/hg38 Xp22.31(chrX:6989414-7926139)x0

Genes:
  • LOC130067909:ATAC-STARR-seq lymphoblastoid active region 29382 [Gene]
  • LOC130067910:ATAC-STARR-seq lymphoblastoid active region 29383 [Gene]
  • LOC130067911:ATAC-STARR-seq lymphoblastoid active region 29384 [Gene]
  • LOC130067912:ATAC-STARR-seq lymphoblastoid active region 29385 [Gene]
  • LOC130067913:ATAC-STARR-seq lymphoblastoid active region 29386 [Gene]
  • LOC130067914:ATAC-STARR-seq lymphoblastoid active region 29387 [Gene]
  • LOC130067916:ATAC-STARR-seq lymphoblastoid active region 29389 [Gene]
  • LOC130067917:ATAC-STARR-seq lymphoblastoid active region 29390 [Gene]
  • LOC130067918:ATAC-STARR-seq lymphoblastoid active region 29391 [Gene]
  • LOC130067915:ATAC-STARR-seq lymphoblastoid silent region 20649 [Gene]
  • LOC126863198:BRD4-independent group 4 enhancer GRCh37_chrX:7889540-7890739 [Gene]
  • LOC126863197:MED14-independent group 3 enhancer GRCh37_chrX:7290864-7292063 [Gene]
  • LOC113875037:Sharpr-MPRA regulatory region 5189 [Gene]
  • LOC125446266:Sharpr-MPRA regulatory region 9499 [Gene]
  • MIR4767:microRNA 4767 [Gene - HGNC]
  • PNPLA4:patatin like phospholipase domain containing 4 [Gene - OMIM - HGNC]
  • PUDP:pseudouridine 5'-phosphatase [Gene - OMIM - HGNC]
  • STS:steroid sulfatase [Gene - OMIM - HGNC]
  • VCX:variable charge X-linked [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
Xp22.31
Genomic location:
ChrX: 6989414 - 7926139 (on Assembly GRCh38)
Preferred name:
GRCh38/hg38 Xp22.31(chrX:6989414-7926139)x0
HGVS:

    Condition(s)

    Name:
    X-linked ichthyosis with steryl-sulfatase deficiency (XLI)
    Synonyms:
    STS DEFICIENCY; Steroid sulfatase deficiency; Steroid sulfatase deficiency disease; See all synonyms [MedGen]
    Identifiers:
    MONDO: MONDO:0010622; MedGen: C0079588; OMIM: 308100

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004697443Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
    criteria provided, single submitter

    (ACMG Guidelines, 2015)    		Pathogenic
    (Feb 22, 2024)     		germlineclinical testing

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

    Help

    Summary from all submissions

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

    Citations

    PubMed

    Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

    Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

    Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

    PubMed [citation]
    PMID:
    25741868
    PMCID:
    PMC4544753

    Details of each submission

    From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV004697443.1

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

    Last Updated: Mar 10, 2024