Vascular malformations (germline) (38 genes) - UCL

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Full name:
Vascular malformations (germline) (38 genes) - UCL
Type of panel:
Custom panel
Provider:
Sophia Genetics
Laboratory:
Centre de Génétique Médicale UCL
Created:
21 Dec 2023 - 14:09
Changed:
16 Feb 2024 - 16:20
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ACVRL1 100.00 1 exons 2-10
ANGPT2 100.00 1 exons 1-9
CCBE1 100.00 1 exons 1-11
CCM2 100.00 1 exons 1 - 10
CDC42 100.00 1 exons 2-6
ENG 100.00 1 exons 1-15
EPHB4 100.00 1 exons 1-17
FAT4 100.00 1 exons 1-17
FLT4 100.00 1 exons 1-30
FOXC2 100.00 1 exon 1
GATA2 100.00 1 exons 3-7
GDF2 100.00 1 exons 1-2
GJA1 100.00 1 exon 2
GJC2 100.00 1 exon 2
GLMN 100.00 1 exons 2-19
HGF 100.00 1 exons 1-18
HRAS 100.00 1 exons 2-5
IKBKG 100.00 1 exons 1-10
ITGA9 100.00 1 exons 1-28
KIF11 100.00 1 exons 1-22
KRAS 100.00 1 exons 1-5
KRIT1 100.00 1 exons 5 - 20
NRAS 100.00 1 exons 2-5
PDCD10 100.00 1 exons 3 - 9
PIEZO1 100.00 1 exons 1-51
PTEN 100.00 1 exons 1-9
PTPN11 100.00 1 exons 1-15
PTPN14 100.00 1 exons 2-19
RAF1 100.00 1 exons 2-17
RASA1 100.00 1 exons 1-25
SMAD4 100.00 1 exons 2-12
SOS1 100.00 1 exons 1-23
SOX18 100.00 1 exons 1-2
STAMBP 100.00 1 exons 3-11
TEK 100.00 1 exons 1-23
TSC1 100.00 1 exons 3-23
TSC2 100.00 1 exons 1-42
VEGFC 100.00 1 exons 2-7