1. Analytes
  2. BLOC1S5

BLOC1S5

Analyte Export to PDF
Name:
biogenesis of lysosomal organelles complex 1 subunit 5
Symbol:
BLOC1S5
Version of Orphanet:
2023-06-22 14:14:43
XREF(s):
Orphanet
HGNC
OMIM
SwissProt
Ensembl
Created:
17 May 2022 - 02:40
Changed:
22 Jun 2023 - 16:14
  • Oculocutaneous albinism / Ocular albinism - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AHR 99.79 1
    AP3B1 99.89 1
    AP3D1 100.00 1
    BLOC1S3 100.00 1
    BLOC1S5 99.80 1
    BLOC1S6 99.98 1
    DCT 99.98 1
    DTNBP1 99.89 1
    EPG5 99.95 1
    FRMD7 99.97 1
    GPR143 99.60 1
    HPS1 100.00 1
    HPS3 99.91 1
    HPS4 99.98 1
    HPS5 99.91 1
    HPS6 100.00 1
    LRMDA 99.87 1
    LYST 99.87 1
    MC1R 100.00 1
    MITF 99.98 1
    MLPH 100.00 1
    MYO5A 99.94 1
    OCA2 99.60 1
    PAX6 99.95 1
    RAB27A 99.94 1
    SLC24A5 99.99 1
    SLC38A8 99.99 1
    SLC45A2 100.00 1
    TYR 100.00 1
    TYRP1 99.97 1
  • Trombosis - Hemostasis (107 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC4 95.00 0 NM_005845.4/ interpretable range CS1>95%
    ABCG5 95.00 0 NM_022436.2/ interpretable range CS1>95%
    ABCG8 95.00 0 NM_022437.2/ interpretable range CS1>95%
    ACTB 95.00 0 NM_001101.4/ interpretable range CS1>95%
    ACTN1 95.00 0 NM_001130004.1/ interpretable range CS1>95%
    ACVRL1 95.00 0 NM_000020.2/ interpretable range CS1>95%
    ADAMTS13 95.00 0 NM_139025.4/ interpretable range CS1>95%
    ANKRD26 95.00 0 NM_014915.2/ interpretable range CS1>95%
    ANO6 95.00 0 NM_001025356.2/ interpretable range CS1>95%
    AP3B1 95.00 0 NM_003664.4/ interpretable range CS1>95%
    AP3D1 95.00 0 NM_001261826.1/ interpretable range CS1>95%
    ARPC1B 95.00 0 NM_005720.3/ interpretable range CS1>95%
    BLOC1S3 95.00 0 NM_212550.3/ interpretable range CS1>95%
    BLOC1S5 95.00 0 NM_201280.2/ interpretable range CS1>95%
    BLOC1S6 95.00 0 NM_012388.2/ interpretable range CS1>95%
    CDC42 95.00 0 NM_001791.3/ interpretable range CS1>95%
    CHST14 95.00 0 NM_130468.3/ interpretable range CS1>95%
    COL1A1 95.00 0 NM_000088.3/ interpretable range CS1>95%
    COL3A1 95.00 0 NM_000090.3/ interpretable range CS1>95%
    COL4A1 95.00 0 NM_001845.5/ interpretable range CS1>95%
    COL4A2 95.00 0 NM_001846.3/ interpretable range CS1>95%
    COL5A1 95.00 0 NM_000093.4/ interpretable range CS1>95%
    COL5A2 95.00 0 NM_000393.3/ interpretable range CS1>95%
    CYCS 95.00 0 NM_018947.5/ interpretable range CS1>95%
    DIAPH1 95.00 0 NM_005219.4/ interpretable range CS1>95%
    DTNBP1 95.00 0 NM_032122.4/ interpretable range CS1>95%
    ENG 95.00 0 NM_000118.3/ interpretable range CS1>95%
    ETV6 95.00 0 NM_001987.4/ interpretable range CS1>95%
    F10 95.00 0 NM_000504.3/ interpretable range CS1>95%
    F11 95.00 0 NM_000128.3/ interpretable range CS1>95%
    F12 95.00 0 NM_000505.3/ interpretable range CS1>95%
    F13A1 95.00 0 NM_000129.3/ interpretable range CS1>95%
    F13B 95.00 0 NM_001994.2/ interpretable range CS1>95%
    F2 95.00 0 NM_000506.3/ interpretable range CS1>95%
    F5 95.00 0 NM_000130.4/ interpretable range CS1>95%
    F7 95.00 0 NM_000131.4/ interpretable range CS1>95%
    F8 95.00 0 NM_000132.3/ interpretable range CS1>95%
    F9 95.00 0 NM_000133.3/ interpretable range CS1>95%
    FERMT3 95.00 0 NM_031471.5/ interpretable range CS1>95%
    FGA 95.00 0 NM_021871.2/ interpretable range CS1>95%
    FGB 95.00 0 NM_005141.4/ interpretable range CS1>95%
    FGG 95.00 0 NM_000509.4/ interpretable range CS1>95%
    FLII 95.00 0 NM_002017.4/ interpretable range CS1>95%
    FLNA 95.00 0 NM_001456.3/ interpretable range CS1>95%
    FYB1 95.00 0 NM_001465.5/ interpretable range CS1>95%
    GATA1 95.00 0 NM_002049.3/ interpretable range CS1>95%
    GDF2 95.00 0 NM_016204.3/ interpretable range CS1>95%
    GFI1B 95.00 0 NM_004188.5/ interpretable range CS1>95%
    GGCX 95.00 0 NM_000821.5/ interpretable range CS1>95%
    GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95%
    GP1BA 95.00 0 NM_000173.6/ interpretable range CS1>95%
    GP1BB 95.00 0 NM_000407.4/ interpretable range CS1>95%
    GP6 95.00 0 NM_001083899.2/ interpretable range CS1>95%
    GP9 95.00 0 NM_000174.4/ interpretable range CS1>95%
    HOXA11 95.00 0 NM_005523.5/ interpretable range CS1>95%
    HPS1 95.00 0 NM_000195.3/ interpretable range CS1>95%
    HPS3 95.00 0 NM_032383.3/ interpretable range CS1>95%
    HPS4 95.00 0 NM_022081.5/ interpretable range CS1>95%
    HPS5 95.00 0 NM_181507.1/ interpretable range CS1>95%
    HPS6 95.00 0 NM_024747.5/ interpretable range CS1>95%
    HRG 95.00 0 NM_000412.3/ interpretable range CS1>95%
    IKZF5 95.00 0 NM_001271840.1/ interpretable range CS1>95%
    ITGA2B 95.00 0 NM_000419.3/ interpretable range CS1>95%
    ITGB3 95.00 0 NM_000212.2/ interpretable range CS1>95%
    KDSR 95.00 0 NM_002035.2/ interpretable range CS1>95%
    KNG1 95.00 0 NM_001102416.2/ interpretable range CS1>95%
    LMAN1 95.00 0 NM_005570.3/ interpretable range CS1>95%
    LYST 95.00 0 NM_000081.3/ interpretable range CS1>95%
    MCFD2 95.00 0 NM_139279.5/ interpretable range CS1>95%
    MECOM 95.00 0 NM_001105078.3/ interpretable range CS1>95%
    MPIG6B 95.00 0 NM_025260.3/ interpretable range CS1>95%
    MPL 95.00 0 NM_005373.2/ interpretable range CS1>95%
    MYH9 95.00 0 NM_002473.5/ interpretable range CS1>95%
    NBEA 95.00 0 NM_015678.4/ interpretable range CS1>95%
    NBEAL2 95.00 0 NM_015175.2/ interpretable range CS1>95%
    P2RY12 95.00 0 NM_022788.4/ interpretable range CS1>95%
    PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95%
    PLA2G4A 95.00 0 NM_024420.2/ interpretable range CS1>95%
    PLAU 95.00 0 NM_002658.3/ interpretable range CS1>95%
    PLG 95.00 0 NM_000301.3/ interpretable range CS1>95%
    PROC 95.00 0 NM_000312.3/ interpretable range CS1>95%
    PROS1 95.00 0 NM_000313.3/ interpretable range CS1>95%
    PTGS1 95.00 0 NM_000962.3/ interpretable range CS1>95%
    RASGRP2 95.00 0 NM_153819.1/ interpretable range CS1>95%
    RBM8A 95.00 0 NM_005105.4/ interpretable range CS1>95%
    RUNX1 95.00 0 NM_001754.4/ interpretable range CS1>95%
    SERPINC1 95.00 0 NM_000488.3/ interpretable range CS1>95%
    SERPIND1 95.00 0 NM_000185.3/ interpretable range CS1>95%
    SERPINE1 95.00 0 NM_000602.4/ interpretable range CS1>95%
    SERPINF2 95.00 0 NM_000934.3/ interpretable range CS1>95%
    SLFN14 95.00 0 NM_001129820.1/ interpretable range CS1>95%
    SMAD4 95.00 0 NM_005359.5/ interpretable range CS1>95%
    SRC 95.00 0 NM_005417.4/ interpretable range CS1>95%
    STIM1 95.00 0 NM_003156.3/ interpretable range CS1>95%
    STXBP2 95.00 0 NM_006949.3/ interpretable range CS1>95%
    TBXA2R 95.00 0 NM_001060.5/ interpretable range CS1>95%
    TBXAS1 95.00 0 NM_001061.4/ interpretable range CS1>95%
    THBD 95.00 0 NM_000361.2/ interpretable range CS1>95%
    THPO 95.00 0 NM_000460.3/ interpretable range CS1>95%
    TPM4 95.00 0 NM_001145160.1/ interpretable range CS1>95%
    TUBB1 95.00 0 NM_030773.3/ interpretable range CS1>95%
    VIPAS39 95.00 0 NM_022067.3/ interpretable range CS1>95%
    VKORC1 95.00 0 NM_024006.4/ interpretable range CS1>95%
    VPS33B 95.00 0 NM_018668.4/ interpretable range CS1>95%
    VWF 95.00 0 NM_000552.3/ interpretable range CS1>95%
    WAS 95.00 0 NM_000377.2/ interpretable range CS1>95%
    RAP1B 95.00 -2 NM_015646.6/ interpretable range CS1>95%
  • chILD (34 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA3 95.00 0 NM_001089.3 / interpretable range CS1>95%
    AP3B1 95.00 0 NM_003664.5/ interpretable range CS1>95%
    AP3D1 95.00 0 NM_001261826.3/ interpretable range CS1>95%
    BLOC1S3 95.00 0 NM_212550.5/ interpretable range CS1>95%
    BLOC1S5 95.00 0 NM_201280.3/ interpretable range CS1>95%
    BLOC1S6 95.00 0 NM_012388.4/ interpretable range CS1>95%
    COPA 95.00 0 NM_004371.4/ interpretable range CS1>95%
    CSF2RA 95.00 0 NM_006140.6/ interpretable range CS1>95%
    CSF2RB 95.00 0 NM_000395.3/ interpretable range CS1>95%
    DTNBP1 95.00 0 NM_032122.5/ interpretable range CS1>95%
    FLNA 95.00 0 NM_001456.4/ interpretable range CS1>95%
    FOXF1 95.00 0 NM_001451.3/ interpretable range CS1>95%
    GATA2 95.00 0 NM_032638.5/ interpretable range CS1>95%
    HPS1 95.00 0 NM_000195.5/ interpretable range CS1>95%
    HPS3 95.00 0 NM_022081.6/ interpretable range CS1>95%
    HPS5 95.00 0 NM_181507.2/ interpretable range CS1>95%
    HPS6 95.00 0 NM_024747.6/ interpretable range CS1>95%
    MARS1 95.00 0 NM_004990.4/ interpretable range CS1>95%
    NKX2-1 95.00 0 NM_001079668.3/ interpretable range CS1>95%
    SFTPA1 95.00 0 NM_005411.5/ interpretable range CS1>95%
    SFTPA2 95.00 0 NM_001098668.4/ interpretable range CS1>95%
    SFTPB 95.00 0 NM_198843.3/ interpretable range CS1>95%
    SFTPC 95.00 0 NM_003018.4/ interpretable range CS1>95%
    STING1 95.00 0 NM_198282.4/ interpretable range CS1>95%
    TBX4 95.00 0 NM_018488.3/ interpretable range CS1>95%
    TERC 95.00 0 NR_001566.1/ interpretable range CS1>95%
    TERT 95.00 0 NM_198253.3/ interpretable range CS1>95%
    HPS4 95.00 0 NM_022081.6/ interpretable range CS1>95%
    MUC5B 95.00 0 NM_002458.3/ interpretable range CS1>95%
    PARN 95.00 0 NM_002582.4/ interpretable range CS1>95%
    RTEL1 95.00 0 NM_032957.5/ interpretable range CS1>95%
    SLC34A2 95.00 0 NM_006424.3/ interpretable range CS1>95%
    SLC7A7 95.00 0 NM_001126106.4/ interpretable range CS1>95%
    RAB5B 95.00 0 NM_002868.4/ interpretable range CS1>95%