Craniofacial anomalies
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Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Remarks
: Remarks about the individual.
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
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Individual ID
Reference
Remarks
Disease
Genes screened
Variants in genes
Variants
Panel size
Owner
00000001
de Araujo TK et al (2016)
de Araujo TK et al (2016)
Genotype of 358 control individuals (Healthy individuals with no history of oral clefting in the past three generations)
Healthy/Control
-
APOC2, APOC4-APOC2, AXIN2, BCL3, BMP4, CLPTM1, DVL2, ERBB2, FGF22, FOXE1, GREM1, HOXA2, IRF6, JAG2, KIF7, LHX8, MSX1, MSX2, PAX9, PGAP3, PRSS35, PTCH1, RARA, SHH, SOX7, SPRY1, SPRY2, SUMO1, TBX1, TBX10, TBX22, TFAP2A, TFAP2A-AS1, TGFB1, TGFB3, VAX1, WNT11, WNT3A, WNT5A, WNT8A, WNT9B
253
358
Admin
00000003
de Araujo TK et al (2016)
de Araujo TK et al (2016)
Q37.0 (IDC-10 Version 2016)
NSCLP
-
APOC2, APOC4-APOC2, AXIN2, BMP4, CLPTM1, DVL2, ERBB2, FOXE1, GREM1, HOXA2, IRF6, JAG2, KIF7, LHX8, MSX1, MSX2, PAX9, PGAP3, PRSS35, RARA, SHH, SOX7, SPRY1, SPRY2, SUMO1, TBX1, TBX10, TBX22, TFAP2A, TFAP2A-AS1, TGFB1, TGFB3, VAX1, WNT11, WNT3A, WNT5A, WNT8A, WNT9B
145
1
Admin
00000004
de Araujo TK et al (2016)
de Araujo TK et al (2016)
Q37.2 (IDC-10 Version 2016)
NSCLP
-
APOC2, APOC4-APOC2, AXIN2, BCL3, BMP4, CLPTM1, DVL2, ERBB2, FGF22, FOXE1, GREM1, HOXA2, IRF6, JAG2, KIF7, LHX8, MSX1, MSX2, PAX9, PGAP3, PRSS35, PTCH1, RARA, SHH, SOX7, SPRY1, SPRY2, SUMO1, TBX1, TBX10, TFAP2A, TFAP2A-AS1, TGFB1, TGFB3, VAX1, WNT11, WNT3A, WNT5A, WNT8A, WNT9B
174
2
Admin
00000005
de Araujo TK et al (2016)
de Araujo TK et al (2016)
Q37.3 Left (IDC-10 Version 2016)
NSCLP
-
APOC2, APOC4-APOC2, AXIN2, BCL3, BMP4, CLPTM1, DVL2, ERBB2, FGF22, FOXE1, GREM1, HOXA2, IRF6, JAG2, KIF7, LHX8, MSX1, MSX2, PAX9, PGAP3, PRSS35, PTCH1, RARA, SHH, SOX7, SPRY1, SPRY2, SUMO1, TBX1, TBX10, TBX22, TFAP2A, TFAP2A-AS1, TGFB1, TGFB3, VAX1, WNT11, WNT3A, WNT5A, WNT8A, WNT9B
171
2
Admin
00000006
de Araujo TK et al (2016)
de Araujo TK et al (2016)
Q37.3 Right (IDC-10 Version 2016)
NSCLP
-
APOC2, APOC4-APOC2, AXIN2, BCL3, BMP4, CLPTM1, DVL2, ERBB2, FGF22, FOXE1, GREM1, HOXA2, IRF6, JAG2, KIF7, LHX8, MSX1, MSX2, PAX9, PGAP3, PRSS35, PTCH1, RARA, SHH, SOX7, SPRY1, SPRY2, SUMO1, TBX1, TBX10, TFAP2A, TFAP2A-AS1, TGFB1, TGFB3, VAX1, WNT11, WNT3A, WNT5A, WNT8A, WNT9B
203
3
Admin
00000007
de Araujo TK et al (2016)
de Araujo TK et al (2016)
Q37.4 (IDC-10 Version 2016)
NSCLP
-
APOC2, APOC4-APOC2, AXIN2, BCL3, BMP4, CLPTM1, DVL2, ERBB2, FGF22, FOXE1, GREM1, HOXA2, IRF6, JAG2, KIF7, LHX8, MSX1, MSX2, PAX9, PGAP3, PRSS35, PTCH1, RARA, SHH, SOX7, SPRY1, SPRY2, SUMO1, TBX1, TBX10, TBX22, TFAP2A, TFAP2A-AS1, TGFB1, TGFB3, VAX1, WNT11, WNT3A, WNT5A, WNT8A, WNT9B
251
53
Admin
00000008
de Araujo TK et al (2016)
de Araujo TK et al (2016)
Q37.5 (IDC-10 Version 2016)
NSCLP
-
APOC2, APOC4-APOC2, AXIN2, BCL3, BMP4, CLPTM1, ERBB2, FGF22, FOXE1, GREM1, IRF6, JAG2, KIF7, LHX8, MSX1, MSX2, PAX9, PGAP3, PRSS35, PTCH1, RARA, SHH, SOX7, SPRY1, SPRY2, SUMO1, TBX1, TBX10, TFAP2A, TFAP2A-AS1, TGFB1, TGFB3, VAX1, WNT11, WNT3A, WNT5A, WNT8A, WNT9B
181
2
Admin
00000009
de Araujo TK et al (2016)
de Araujo TK et al (2016)
Q37.5 Left (IDC-10 Version 2016)
NSCLP
-
APOC2, APOC4-APOC2, AXIN2, BCL3, BMP4, CLPTM1, DVL2, ERBB2, FGF22, FOXE1, GREM1, HOXA2, IRF6, JAG2, KIF7, LHX8, MSX1, MSX2, PAX9, PGAP3, PRSS35, PTCH1, RARA, SHH, SOX7, SPRY1, SPRY2, SUMO1, TBX1, TBX10, TBX22, TFAP2A, TFAP2A-AS1, TGFB1, TGFB3, VAX1, WNT11, WNT3A, WNT5A, WNT8A, WNT9B
253
60
Admin
00000010
de Araujo TK et al (2016)
de Araujo TK et al (2016)
Q37.5 Right (IDC-10 Version 2016)
NSCLP
-
APOC2, APOC4-APOC2, AXIN2, BCL3, BMP4, CLPTM1, DVL2, ERBB2, FGF22, FOXE1, GREM1, HOXA2, IRF6, JAG2, KIF7, LHX8, MSX1, MSX2, PAX9, PGAP3, PRSS35, PTCH1, RARA, SHH, SOX7, SPRY1, SPRY2, SUMO1, TBX1, TBX10, TBX22, TFAP2A, TFAP2A-AS1, TGFB1, TGFB3, VAX1, WNT11, WNT3A, WNT5A, WNT8A, WNT9B
250
24
Admin
00000011
de Araujo TK et al (2016)
de Araujo TK et al (2016)
Q37 (IDC-10 Version 2016)
NSCLP
-
APOC2, APOC4-APOC2, AXIN2, BCL3, BMP4, CLPTM1, DVL2, ERBB2, FGF22, FOXE1, GREM1, HOXA2, IRF6, JAG2, KIF7, LHX8, MSX1, MSX2, PAX9, PGAP3, PRSS35, PTCH1, RARA, SHH, SOX7, SPRY1, SPRY2, SUMO1, TBX1, TBX10, TBX22, TFAP2A, TFAP2A-AS1, TGFB1, TGFB3, VAX1, WNT11, WNT3A, WNT5A, WNT8A, WNT9B
249
30
Admin
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