Results 1 to 4 of 4

Thread: Adrenoleukodystrophy

  1. #1
    Registered Users
    Posts
    137
    Sex
    Location
    usa
    Ethnicity
    Russo-Moksha-Mari-Ukr
    Nationality
    Russian/Murican

    Russia Imperial Ukraine Finland Russia Mordovia

    Adrenoleukodystrophy

    AMN.JPG

    I am a male. At first when I saw this on my promethease I was like ah alright im a carrier, this doesn't mean shit.
    And then I realized this is an X linked mutation...

    Am I fucked or what? This is the only pathogenic ABCD1 variant that I have....

    A couple years ago I was diagnosed with schizophrenia, could this be a manifestation of andrenoleukodystrophy? I have no symptoms really, and anti-psychotic meds I take work for me.

    I will obviously get a blood test soon, that's for sure.

    I guess I kinda don't care too much if I'm gonna die its whatever, I'll kill myself before anyone tries to put me in a wheelchair though
    Target: Andrei
    Distance: 0.2501% / 0.25007947
    55.7 Corded_Ware
    33.4 Bell_Beaker_LN
    10.0 Karasuk
    0.9 Yukagir

  2. #2
    Gold Class Member
    Posts
    1,474
    Sex
    Location
    Cambridge MA / Rome, Italy / San Diego, CA (currently)
    Ethnicity
    Polish/British Isles
    Nationality
    U.S.
    Y-DNA (P)
    R-Y154732
    mtDNA (M)
    H1
    mtDNA (P)
    J1c2

    Poland England Ireland Munster
    rs398123113 is an extremely rare variant: https://www.ncbi.nlm.nih.gov/snp/rs398123113, https://gnomad.broadinstitute.org/va...-152991335-C-T
    Guessing this is from a WGS or WES test? Was rs398123113 a high coverage / high quality call (you would need to check the vcf/bam files)?
    As a male you would expect to be homozygous for high quality X chromosome calls, but the report indicates heterozygous, so it's probably worth checking that variant in more detail.
    rs398123113 appears in Clinvar, but not in any publications. https://www.ncbi.nlm.nih.gov/clinvar/variation/92328/
    rs398123113 has two stars out of four in Clinvar, explanation of that here: https://www.ncbi.nlm.nih.gov/clinvar...review_status/
    Adrenoleukodystrophy
    YFull: YF14620 (Dante Labs 2018)

  3. #3
    Registered Users
    Posts
    137
    Sex
    Location
    usa
    Ethnicity
    Russo-Moksha-Mari-Ukr
    Nationality
    Russian/Murican

    Russia Imperial Ukraine Finland Russia Mordovia
    Quote Originally Posted by pmokeefe View Post
    rs398123113 is an extremely rare variant: https://www.ncbi.nlm.nih.gov/snp/rs398123113, https://gnomad.broadinstitute.org/va...-152991335-C-T
    Guessing this is from a WGS or WES test? Was rs398123113 a high coverage / high quality call (you would need to check the vcf/bam files)?
    As a male you would expect to be homozygous for high quality X chromosome calls, but the report indicates heterozygous, so it's probably worth checking that variant in more detail.
    rs398123113 appears in Clinvar, but not in any publications. https://www.ncbi.nlm.nih.gov/clinvar/variation/92328/
    rs398123113 has two stars out of four in Clinvar, explanation of that here: https://www.ncbi.nlm.nih.gov/clinvar...review_status/
    Adrenoleukodystrophy
    This is from a myheritage test. Its not reliable?
    Target: Andrei
    Distance: 0.2501% / 0.25007947
    55.7 Corded_Ware
    33.4 Bell_Beaker_LN
    10.0 Karasuk
    0.9 Yukagir

  4. #4
    Gold Class Member
    Posts
    1,474
    Sex
    Location
    Cambridge MA / Rome, Italy / San Diego, CA (currently)
    Ethnicity
    Polish/British Isles
    Nationality
    U.S.
    Y-DNA (P)
    R-Y154732
    mtDNA (M)
    H1
    mtDNA (P)
    J1c2

    Poland England Ireland Munster
    Other people have had apparent rs398123113 miscalls from MyHeritage:
    https://www.reddit.com/r/promethease...ophy_miscalls/

    Generic array tests like MyHeritage tests, 23andMe and Ancestry are probably not a good resource for rare diseases.
    WGS/WES tests or custom panels for specific diseases (usually ordered through a health care professional) are better resources.

    If you are concerned about a genetic test result for a rare disease like ALD, it would be a good idea to seek advice from a medical specialist and get tested with a more reliable method.

    Overview of genetic testing:
    https://www.cdc.gov/genomics/gtestin...ic_testing.htm
    https://www.nhs.uk/conditions/geneti...nomic-testing/

    Rare Diseases:
    https://rarediseases.info.nih.gov/
    https://www.orpha.net/consor/cgi-bin/index.php?lng=EN
    https://www.genomicsengland.co.uk/ge...sease-genomics
    Last edited by pmokeefe; 09-21-2022 at 05:41 AM.
    YFull: YF14620 (Dante Labs 2018)

  5. The Following User Says Thank You to pmokeefe For This Useful Post:

     al.Krivich (09-22-2022)

Tags for this Thread

Posting Permissions

  • You may not post new threads
  • You may not post replies
  • You may not post attachments
  • You may not edit your posts
  •