Microphthalmia/Anophthalmia/Coloboma - Anterior Segment Dysgenesis - UGent

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Full name:
Microphthalmia/Anophthalmia/Coloboma - Anterior Segment Dysgenesis - UGent
Abbreviation:
MAC-ASD
Type of panel:
in-house
Version number:
v3
Laboratory:
Centrum Medische Genetica - UZ Gent
Created:
18 Jun 2019 - 11:52
Changed:
20 Dec 2022 - 13:54
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ABCB6 99.97 1
ACTB 100.00 1
ACTG1 100.00 1
ADAMTS17 99.99 1
ADAMTS18 99.99 1
ALDH1A3 99.96 1
ASPH 99.92 1
ATOH7 100.00 1
B3GLCT 99.90 1
BCOR 99.97 1
BMP4 100.00 1
BMP7 100.00 1
C12ORF57 100.00 1
CAPN15 99.98 1
CC2D2A 99.95 1
CDH2 99.84 1
CDON 99.99 1
CHD7 99.99 1
CHRDL1 99.94 1
CLDN19 99.02 1
COL4A1 99.99 1
COX7B 99.86 1
CPAMD8 99.97 1
CRIM1 99.99 1
CRYBA4 100.00 1
CYP1B1 100.00 1
DYRK1A 99.98 1
ERCC1 99.96 1
ERCC2 99.98 1
ERCC5 99.99 1
ERCC6 99.60 1
EYA1 99.81 1
FOXC1 100.00 1
FOXE3 99.29 1
FOXL2 99.97 1
FRAS1 99.97 1
FREM1 99.98 1
FREM2 99.97 1
FZD5 100.00 1
GDF3 100.00 1
GDF6 100.00 1
GJA1 100.00 1
GRIP1 99.83 1
HCCS 99.90 1
HESX1 99.77 1
HMGB3 0.00 1
HMX1 100.00 1
IGBP1 99.90 1
KDM6A 99.74 1
KIF26B 100.00 1
KMT2D 99.98 1
LRP2 99.86 1
LTBP2 99.97 1
MAB21L2 100.00 1
MFRP 100.00 1
MICU1 99.56 1
MITF 99.98 1
MYRF 99.98 1
NAA10 99.99 1
NDP 99.98 1
NHS 99.96 1
OCRL 99.89 1
OTX2 100.00 1
PAX2 99.99 1
PAX6 99.95 1
PIGL 99.98 1
PITX2 99.98 1
PITX3 100.00 1
PORCN 99.93 1
PQBP1 99.99 1
PRKRA 100.00 1
PRSS56 100.00 1
PTCH1 99.99 1
PUF60 100.00 1
PXDN 100.00 1
RAB18 99.76 1
RAB3GAP1 99.73 1
RAB3GAP2 99.69 1
RARB 99.99 1
RBP4 99.99 1
RPGRIP1L 96.35 1
SALL2 100.00 1
SALL4 100.00 1
SHH 100.00 1
SIX3 100.00 1
SIX6 100.00 1
SLC38A8 99.99 1
SMCHD1 99.83 1
SMOC1 100.00 1
SOX2 100.00 1
STRA6 99.95 1
TBC1D20 100.00 1
TENM3 99.99 1
TFAP2A 100.00 1
TMEM67 99.69 1
TMEM98 100.00 1
VAX1 100.00 1
VSX1 99.93 1
VSX2 99.99 1
WDR37 99.94 1
YAP1 99.87 1
ZIC2 100.00 1