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B4GALT1-CDG

Disease Export to PDF
Name:
B4GALT1-CDG
Description:
B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.
ORPHAcode:
79332
Synonyms:
Beta-1,4-galactosyltransferase deficiency
CDG syndrome type IId
CDG-IId
CDG2D
Carbohydrate deficient glycoprotein syndrome type IId
Congenital disorder of glycosylation type 2d
Congenital disorder of glycosylation type IId
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
B4GALT1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Congenital disorders of glycosylation (79 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALDOB 95.00 0 NM_000035.3/ interpretable range CS1>95%
    ALG1 95.00 0 NM_019109.4/ interpretable range CS1>95%
    ALG10 95.00 0 NM_032834.3/ interpretable range CS1>95%
    ALG11 95.00 0 NM_001004127.2/ interpretable range CS1>95%
    ALG12 95.00 0 NM_024105.3/ interpretable range CS1>95%
    ALG13 95.00 0 NM_001099922.2/ interpretable range CS1>95%
    ALG14 95.00 0 NM_144988.3/ interpretable range CS1>95%
    ALG2 95.00 0 NM_033087.3/ interpretable range CS1>95%
    ALG3 95.00 0 NM_005787.5/ interpretable range CS1>95%
    ALG5 95.00 0 NM_013338.4/ interpretable range CS1>95%
    ALG6 95.00 0 NM_013339.3/ interpretable range CS1>95%
    ALG8 95.00 0 NM_024079.4/ interpretable range CS1>95%
    ALG9 95.00 0 NM_024740.2/ interpretable range CS1>95%
    ATP6V0A2 95.00 0 NM_012463.3/ interpretable range CS1>95%
    ATP9B 95.00 0 NM_198531.4/ interpretable range CS1>95%
    B3GLCT 95.00 0 NM_194318.3/ interpretable range CS1>95%
    B4GALT1 95.00 0 NM_001497.3/ interpretable range CS1>95%
    COG1 95.00 0 NM_018714.2/ interpretable range CS1>95%
    COG2 95.00 0 NM_007357.2/ interpretable range CS1>95%
    COG3 95.00 0 NM_031431.3/ interpretable range CS1>95%
    COG4 95.00 0 NM_015386.2/ interpretable range CS1>95%
    COG5 95.00 0 NM_006348.3/ interpretable range CS1>95%
    COG6 95.00 0 NM_020751.2/ interpretable range CS1>95%
    COG7 95.00 0 NM_153603.3/ interpretable range CS1>95%
    COG8 95.00 0 NM_032382.4/ interpretable range CS1>95%
    DAD1 95.00 0 NM_001344.3/ interpretable range CS1>95%
    DDOST 95.00 0 NM_005216.4/ interpretable range CS1>95%
    DHDDS 95.00 0 NM_024887.3/ interpretable range CS1>95%
    DOLK 95.00 0 NM_014908.3/ interpretable range CS1>95%
    DPAGT1 95.00 0 NM_001382.3/ interpretable range CS1>95%
    DPM1 95.00 0 NM_003859.2/ interpretable range CS1>95%
    DPM2 95.00 0 NM_003863.3/ interpretable range CS1>95%
    DPM3 95.00 0 NM_153741.1/ interpretable range CS1>95%
    FKRP 95.00 0 NM_024301.4/ interpretable range CS1>95%
    FKTN 95.00 0 NM_001079802.1/ interpretable range CS1>95%
    FUT1 95.00 0 NM_000148.3/ interpretable range CS1>95%
    GALE 95.00 0 NM_000403.3/ interpretable range CS1>95%
    GALK1 95.00 0 NM_000154.1/ interpretable range CS1>95%
    GALT 95.00 0 NM_000155.3/ interpretable range CS1>95%
    GFPT1 95.00 0 NM_002056.3/ interpretable range CS1>95%
    GMPPA 95.00 0 NM_205847.2/ interpretable range CS1>95%
    GMPPB 95.00 0 NM_013334.3/ interpretable range CS1>95%
    GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95%
    LARGE1 95.00 0 NM_004737.6/ interpretable range CS1>95%
    MAGT1 95.00 0 NM_032121.5/ interpretable range CS1>95%
    MAN1B1 95.00 0 NM_016219.4/ interpretable range CS1>95%
    MGAT1 95.00 0 NM_001114618.1/ interpretable range CS1>95%
    MGAT2 95.00 0 NM_002408.3/ interpretable range CS1>95%
    MOGS 95.00 0 NM_006302.2/ interpretable range CS1>95%
    MPDU1 95.00 0 NM_004870.3/ interpretable range CS1>95%
    MPI 95.00 0 NM_002435.2/ interpretable range CS1>95%
    OST4 95.00 0 NM_001134693.1/ interpretable range CS1>95%
    PGM1 95.00 0 NM_002633.2/ interpretable range CS1>95%
    PGM2 95.00 0 NM_018290.3/ interpretable range CS1>95%
    PGM3 95.00 0 NM_001199917.1/ interpretable range CS1>95%
    PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95%
    PIGL 95.00 0 NM_004278.3/ interpretable range CS1>95%
    PIGM 95.00 0 NM_145167.2/ interpretable range CS1>95%
    PIGN 95.00 0 NM_176787.4/ interpretable range CS1>95%
    PIGV 95.00 0 NM_017837.3/ interpretable range CS1>95%
    PMM2 95.00 0 NM_000303.2/ interpretable range CS1>95%
    POMGNT1 95.00 0 NM_017739.3/ interpretable range CS1>95%
    POMT1 95.00 0 NM_007171.3/ interpretable range CS1>95%
    POMT2 95.00 0 NM_013382.5/ interpretable range CS1>95%
    RFT1 95.00 0 NM_052859.3/ interpretable range CS1>95%
    RPN1 95.00 0 NM_002950.3/ interpretable range CS1>95%
    RPN2 95.00 0 NM_002951.4/ interpretable range CS1>95%
    SEC23B 95.00 0 NM_032985.5/ interpretable range CS1>95%
    SLC35A1 95.00 0 NM_006416.4/ interpretable range CS1>95%
    SLC35A3 95.00 0 NM_012243.2/ interpretable range CS1>95%
    SLC35C1 95.00 0 NM_018389.4/ interpretable range CS1>95%
    SLC35D1 95.00 0 NM_015139.2/ interpretable range CS1>95%
    SRD5A3 95.00 0 NM_024592.4/ interpretable range CS1>95%
    ST3GAL3 95.00 0 NM_174963.4/ interpretable range CS1>95%
    ST3GAL5 95.00 0 NM_003896.3/ interpretable range CS1>95%
    STT3A 95.00 0 NM_152713.4/ interpretable range CS1>95%
    STT3B 95.00 0 NM_178862.2/ interpretable range CS1>95%
    TMEM165 95.00 0 NM_018475.4/ interpretable range CS1>95%
    TUSC3 95.00 0 NM_006765.3/ interpretable range CS1>95%