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Hoyeraal-Hreidarsson syndrome

Disease Export to PDF
Name:
Hoyeraal-Hreidarsson syndrome
Description:
An X-linked syndromic intellectual disability considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
ORPHAcode:
3322
Synonyms:
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
XREF(s):
Orphanet
MeSH
ICD-10
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
Analyte(s):
DKC1
TERT
TINF2
RTEL1
ACD
PARN
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Dyskeratosis Congenita (18 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACD 95.00 0 NM_001082486.1/ interpretable range CS1>95%
    CTC1 95.00 0 NM_025099.5/ interpretable range CS1>95%
    DKC1 95.00 0 NM_001363.4/ interpretable range CS1>95%
    GRHL2 95.00 0 NM_024915.3/ interpretable range CS1>95%
    LIG4 95.00 0 NM_002312.3/ interpretable range CS1>95%
    TNIP1 95.00 0 NM_138386.2/ interpretable range CS1>95%
    NHP2 95.00 0 NM_017838.3/ interpretable range CS1>95%
    NOP10 95.00 0 NM_018648.3/ interpretable range CS1>95%
    PARN 95.00 0 NM_002582.3/ interpretable range CS1>95%
    POT1 95.00 0 NM_015450.2/ interpretable range CS1>95%
    RTEL1 95.00 0 NM_032957.4/ interpretable range CS1>95%
    STN1 95.00 0 NM_024928.4/ interpretable range CS1>95%
    TERC 95.00 0 NR_001566.1/ interpretable range CS1>95%
    TERT 95.00 0 NM_198253.2/ interpretable range CS1>90%
    TINF2 95.00 0 NM_001099274.1/ interpretable range CS1>95%
    USB1 95.00 0 NM_024598.3/ interpretable range CS1>95%
    WRAP53 95.00 0 NM_018081.2/ interpretable range CS1>95%
    NAF1 95.00 0 NM_138386.3/ interpretable range CS1>95%
  • Pulmonary Fibrosis (21 genes) + rs35705950 (MUC5B gene) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA3 100.00 0 NM_001089.2
    ACD 100.00 0 NM_001082486.1
    CSF2RA 100.00 0 NM_006140.4
    CSF2RB 100.00 0 NM_000395.2
    DKC1 100.00 0 NM_001363.4
    GATA2 100.00 0 NM_032638.4
    GBA1 100.00 0 NM_001005741.2
    HPS1 100.00 0 NM_000195.3
    HPS4 100.00 0 NM_022081.5
    NHP2 100.00 0 NM_017838.3
    NKX2-1 100.00 0 NM_001079668.2
    PARN 100.00 0 NM_002582.3
    RTEL1 100.00 0 NM_032957.4
    SFTPA1 100.00 0 NM_005411.4
    SFTPA2 100.00 0 NM_001098668.2
    SFTPC 100.00 0 NM_003018.3
    SLC34A2 100.00 0 NM_006424.2
    SMPD1 100.00 0 NM_000543.4
    TERC 100.00 0 NR_001566.1
    TERT 100.00 0 NM_198253.2
    TINF2 100.00 0 NM_001099274.1