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Townes-Brocks syndrome

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Name:
Townes-Brocks syndrome
Description:
A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.
ORPHAcode:
857
Synonyms:
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
XREF(s):
Orphanet
OMIM
MeSH
OMIM
ICD-10
Analyte(s):
SALL1
DACT1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Cakut (congenital anomalies of the kidney and urinary tract-1) (69 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACE 100.00 1 NM_000789.4
    ACTG2 100.00 1 NM_001615.4
    AGT 100.00 1 NM_001384479.1
    AGTR1 100.00 1 NM_000685.5
    ANOS1 100.00 1 NM_000216.4
    BMP4 100.00 1 NM_001202.6
    BMP7 100.00 1 NM_001719.3
    CDC5L 100.00 1 NM_001253.4
    CHD1L 100.00 1 NM_004284.6
    CHD7 100.00 1 NM_017780.4
    DSTYK 100.00 1 NM_015375.3
    EYA1 100.00 1 NM_000503.6
    FGF20 100.00 1 NM_019851.3
    FRAS1 100.00 1 NM_025074.7
    FREM1 100.00 1 NM_001379081.2
    FREM2 100.00 1 NM_207361.6
    GATA3 100.00 1 NM_001002295.2
    GLI3 100.00 1 NM_000168.6
    GREB1L 100.00 1 NM_001142966.3
    GRIP1 100.00 1 NM_001366722.1
    HNF1B 100.00 1 NM_000458.4
    ITGA8 100.00 1 NM_003638.3
    NOTCH2 99.00 1 NM_024408.4
    NPHP3 100.00 1 NM_153240.5
    PAX2 100.00 1 NM_000278.5
    PBX1 100.00 1 NM_002585.4
    REN 100.00 1 NM_000537.4
    RET 100.00 1 NM_020975.6
    ROBO2 100.00 1 NM_001395656.1
    RPGRIP1L 96.00 1 NM_015272.5
    SALL1 100.00 1 NM_002968.3
    SALL4 100.00 1 NM_020436.5
    SIX1 100.00 1 NM_005982.4
    SIX2 100.00 1 NM_016932.5
    SIX5 100.00 1 NM_175875.5
    SOX17 100.00 1 NM_022454.4
    TBX18 100.00 1 NM_001080508.3
    UMOD 100.00 1 NM_003361.4
    UPK3A 100.00 1 NM_006953.4
    WNT4 100.00 1 NM_030761.5
    AGTR2 100.00 1 NM_000686.5
    AGXT 100.00 1 NM_000030.3
    BNC2 100.00 1 NM_017637.6
    CCNQ 100.00 1 NM_152274.5
    CEP55 100.00 1 NM_018131.5
    CHRM3 100.00 1 NM_001375978.1
    CHRNA3 100.00 1 NM_000743.5
    CTU2 100.00 1 NM_001012759.3
    FOXC1 100.00 1 NM_001453.3
    GPC3 100.00 1 NM_004484.4
    HOXA13 100.00 1 NM_000522.5
    HPSE2 100.00 1 NM_021828.5
    JAG1 100.00 1 NM_000214.3
    KIF14 100.00 1 NM_014875.3
    LIFR 100.00 1 NM_001127671.2
    LRIG2 100.00 1 NM_014813.3
    LRP4 100.00 1 NM_002334.4
    NADSYN1 100.00 1 NM_018161.5
    ROBO1 100.00 1 NM_002941.4
    SDCCAG8 100.00 1 NM_006642.5
    SLIT2 100.00 1 NM_004787.4
    STRA6 100.00 1 NM_022369.4
    TBC1D1 100.00 1 NM_001396959.1
    TFAP2A 100.00 1 NM_001372066.1
    TMEM260 100.00 1 NM_017799.4
    TRAP1 100.00 1 NM_016292.3
    WFS1 100.00 1 NM_006005.3
    ZIC3 100.00 1 NM_003413.4
    ZMYM2 100.00 1 NM_197968.4