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Beta-propeller protein-associated neurodegeneration

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Name:
Beta-propeller protein-associated neurodegeneration
Description:
Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.
ORPHAcode:
329284
Synonyms:
BPAN
NBIA5
Neurodegeneration with brain iron accumulation type 5
SENDA
Static encephalopathy of childhood with neurodegeneration in adulthood
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
WDR45
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Neurodegeneration with Brain Iron Accumulation (NBIA) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AP4M1 100.00 1
    ATP13A2 100.00 1
    C19ORF12 100.00 1
    COASY 100.00 1
    CP 100.00 1
    CRAT 100.00 1
    DCAF17 100.00 1
    DDHD1 100.00 1
    FA2H 100.00 1
    FTL 100.00 1
    GTPBP2 100.00 1
    PANK2 100.00 1
    PLA2G6 100.00 1
    SCP2 100.00 1
    WDR45 100.00 1
    REPS1 100.00 1