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CAMOS syndrome

Disease Export to PDF
Name:
CAMOS syndrome
Description:
A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.
ORPHAcode:
83472
Synonyms:
Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome
SCAR5
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
ZNF592
WDR73
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACTN4 100.00 1 NM_004924.6
    AMN 100.00 1 NM_030943.4
    ANLN 100.00 1 NM_018685.5
    APOA1 100.00 1 NM_000039.3
    APOL1 100.00 1 NM_003661.4
    ARHGAP24 100.00 1 NM_001025616.3
    ARHGDIA 100.00 1 NM_004309.6
    AVIL 100.00 1 NM_006576.4
    B2M 100.00 1 NM_004048.4
    C3 100.00 1 NM_000064.4
    CD151 100.00 1 NM_004357.5
    CD2AP 100.00 1 NM_012120.3
    CLCN5 100.00 1 NM_001127898.4
    COL4A3 100.00 1 NM_000091.5
    COL4A4 100.00 1 NM_000092.5
    COL4A5 100.00 1 NM_033380.3
    COL4A6 100.00 1 NM_033641.4
    COQ2 100.00 1 NM_001358921.2
    COQ6 100.00 1 NM_182476.3
    COQ8A 100.00 1 NM_020247.5
    COQ8B 100.00 1 NM_024876.4
    CRB2 100.00 1 NM_173689.7
    CUBN 100.00 1 NM_001081.4
    DGKE 100.00 1 NM_003647.3
    EMP2 100.00 1 NM_001424.6
    FGA 100.00 1 NM_021871.4
    FN1 100.00 1 NM_212482.4
    G6PC1 100.00 1 NM_000151.4
    GLA 100.00 1 NM_000169.3
    GSN 100.00 1 NM_198252.3
    INF2 100.00 1 NM_022489.4
    KANK2 100.00 1 NM_001136191.3
    LAMB2 100.00 1 NM_002292.4
    LMX1B 100.00 1 NM_001174147.2
    LRP2 100.00 1 NM_004525.3
    LYZ 100.00 1 NM_000239.3
    MAGI2 100.00 1 NM_012301.4
    MYH9 100.00 1 NM_002473.6
    MYO1E 100.00 1 NM_004998.4
    NPHS1 100.00 1 NM_004646.4
    NPHS2 100.00 1 NM_014625.4
    NUP107 100.00 1 NM_020401.4
    NUP133 100.00 1 NM_018230.3
    NUP160 100.00 1 NM_015231.3
    NUP205 100.00 1 NM_015135.3
    NUP85 100.00 1 NM_024844.5
    NUP93 100.00 1 NM_014669.5
    OCRL 100.00 1 NM_000276.4
    PAX2 100.00 1 NM_000278.5
    PDSS2 100.00 1 NM_020381.4
    PLCE1 100.00 1 NM_016341.4
    PMM2 0.00 1 NM_000303.2 / only position Chr16(GRCh38):g.8797616 87976
    PTPRO 100.00 1 NM_030667.3
    SGPL1 100.00 1 NM_003901.4
    SLC35A1 100.00 1 NM_006416.5
    TBC1D8B 100.00 1 NM_017752.3
    TRPC6 100.00 1 NM_004621.6
    TTC21B 100.00 1 NM_024753.5
    TTR 100.00 1 NM_000371.4
    UMOD 100.00 1 NM_003361.4
    WDR73 100.00 1 NM_032856.5
    WT1 100.00 1 NM_024426.6
    GON7 100.00 1 NM_032490.5
    ITGA3 100.00 1 NM_002204.4
    KIRREL1 100.00 1 NM_018240.7
    LAGE3 100.00 1 NM_006014.5
    LAMA5 100.00 1 NM_005560.6
    NOS1AP 100.00 1 NM_014697.3
    OSGEP 100.00 1 NM_017807.4
    PODXL 94.00 1 NM_001018111.3
    SARS2 100.00 1 NM_017827.4
    SMARCAL1 100.00 1 NM_014140.4
    TP53RK 100.00 1 NM_033550.4
    TPRKB 100.00 1 NM_016058.5
    WDR4 100.00 1 NM_018669.6
    XPO5 100.00 1 NM_020750.3
    YRDC 100.00 1 NM_024640.4