44617-9

PWS gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal

Active

Part Descriptions

LP36750-5   PWS gene
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are rare genetic disorders in which several genes (e.g. SNRPN, UBE3A) on chromosome 15(q11-13) are deleted or unexpressed. Alterations in the PWS/AS region (15q11-13) may occur by several genetic mechanisms, including chance mutation, uniparental disomy, sporadic mutations, chromosome translocations, and gene deletions. PWS and AS are some of the first reported instances of imprinting disorders in humans. In PWS, the maternally inherited copies of genes are virtually silent due to imprinting. Only the paternal copies of the genes are expressed. Therefore, PWS results from the loss of paternal copies of this region. Alternately, AS is caused by deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced.

Characteristic features of PWS include diminished fetal activity, obesity, hypotonia, developmental delay, short stature, hypogonadotropic hypogonadism, strabismus, and small hands and feet. AS is characterized by intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Prader-Willi Syndrome (PWS) and Angleman Syndrome (AS), Genomic Imprinting

LP36750-5   PWS gene
The PWS gene (Prader-Willi syndrome chromosome region) gene is located on chromosome 15q11-q12. A number sign (#) is used with this entry because of evidence that Prader-Willi syndrome (PWS) is in effect a contiguous gene syndrome resulting from deletion of the paternal copies of the imprinted SNRPN gene (MIM 182279), the necdin gene (MIM 602117), and possibly other genes within the chromosome region 15q11-q13. Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) PMID: 18627066 provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (MIM 105830) region. See also the chromosome 15q11-q13 duplication syndrome (MIM 608636), which shows overlapping clinical features.[supplied by OMIM] [NCBI Gene ID:5821] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name

PWS gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis

Long Common Name

PWS gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal

Short Name

PWS gene Mut Bld/T Mut Anl

Display Name

PWS gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)

Consumer Name Alpha Get Info

PWS gene mutations found, Blood or tissue specimen

Part Model Get Info

• Component

  PWS gene mutations
  LP452090-6

  • Analyte

    PWS gene mutations
    LP452090-6

    • Component Numerator

      PWS gene mutations
      LP452090-6

      • Component Numerator Core

        PWS gene
        LP36750-5

      • Component Numerator Core Suffix

        mutations
        LP452208-4

    • Component Denominator

      NULL
       

      • Component Denominator Core

        NULL
         

      • Component Denominator Core Suffix

        NULL
         

  • Challenge

    NULL
     

  • Adjustment

    NULL
     

  • Count

    NULL
     

• Property

  Prid
  LP6850-4

• Time

  Pt
  LP6960-1

  • Time Core

    Pt
    LP6960-1

  • Time Modifier

    NULL
     

• System

  Bld/Tiss
  LP7061-7

  • System Core

    Bld/Tiss
    LP7061-7

  • Super System

    NULL
     

• Scale

  Nom
  LP7750-5

• Method

  Targeted gene mutation analysis
  LP95475-7

Basic Attributes

Class

MOLPATH.MUT

Type

Laboratory

First Released

Version 2.17

Last Updated

Version 2.83 (NAM)

Change Reason

Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.

Order vs. Observation

Both

Language Variants Get Info

Related Names

• 15q11-13
• Blood
• Genetics
• Heredity
• Heritable
• Identity or presence
• Inherited
• Molecular pathology
• MOLPATH
• MOLPATH.MUTATIONS
• Mut
• Mut Anl
• Mutation
• Mutations
• Muts
• Nominal
• Point in time
• Prader Willi syndrome
• Prader-Willi syndrome chromosome region
• PWS
• Random
• SNRPN
• Tissue
• Tissue, unspecified
• WB
• Whole blood
• Whole blood or Tissue

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CodeSystem lookup

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=44617-9

LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.