×
Entrez Id:
23314
Gene Symbol:
SATB2
SATB2
Cleft Palate
0.890
Biomarker
GENOMICS_ENGLAND
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.
16179223
2005
×
Entrez Id:
3664
Gene Symbol:
IRF6
IRF6
Cleft Palate
0.700
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Cleft Palate
0.640
Biomarker
GENOMICS_ENGLAND
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
1677770
1991
×
Entrez Id:
23327
Gene Symbol:
NEDD4L
NEDD4L
Cleft Palate
0.620
Biomarker
GENOMICS_ENGLAND
Here we show that missense mutations in NEDD4L mapping to the HECT domain of the encoded E3 ubiquitin ligase lead to PNH associated with toe syndactyly, cleft palate and neurodevelopmental delay.
27694961
2016
×
Entrez Id:
2304
Gene Symbol:
FOXE1
FOXE1
Cleft Palate
0.490
Biomarker
GENOMICS_ENGLAND
We identified and characterized the function of a new homozygous FOXE1 missense mutation (p.R73S) in a boy with a typical phenotype (athyreosis, cleft palate , and partial choanal atresia).
24219130
2014
×
Entrez Id:
50945
Gene Symbol:
TBX22
TBX22
Cleft Palate
0.490
Biomarker
GENOMICS_ENGLAND
X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.
22784330
2013
×
Entrez Id:
2304
Gene Symbol:
FOXE1
FOXE1
Cleft Palate
0.490
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Cleft Palate
0.470
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
4212
Gene Symbol:
MEIS2
MEIS2
Cleft Palate
0.430
Biomarker
GENOMICS_ENGLAND
In syndromic cases of cleft palate , MEIS2 should be considered among the candidate genes, for example, in cases without 22q11.2 deletions.
24678003
2014
×
Entrez Id:
6662
Gene Symbol:
SOX9
SOX9
Cleft Palate
0.420
Biomarker
GENOMICS_ENGLAND
Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.
12783851
2003
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
Cleft Palate
0.420
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
3199
Gene Symbol:
HOXA2
HOXA2
Cleft Palate
0.410
Biomarker
GENOMICS_ENGLAND
HOXA2 biallelic mutations were also described in an inbreed family with autosomal recessive microtia, hearing impairment and incomplete cleft palate .
27503514
2017
×
Entrez Id:
8241
Gene Symbol:
RBM10
RBM10
Cleft Palate
0.410
Biomarker
GENOMICS_ENGLAND
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate .
20451169
2010
×
Entrez Id:
6125
Gene Symbol:
RPL5
RPL5
Cleft Palate
0.410
Biomarker
GENOMICS_ENGLAND
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
19061985
2008
×
Entrez Id:
2303
Gene Symbol:
FOXC2
FOXC2
Cleft Palate
0.410
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
1906
Gene Symbol:
EDN1
EDN1
Cleft Palate
0.410
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
1301
Gene Symbol:
COL11A1
COL11A1
Cleft Palate
0.410
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
1822
Gene Symbol:
ATN1
ATN1
Cleft Palate
0.400
Biomarker
GENOMICS_ENGLAND
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
30827498
2019
×
Entrez Id:
10907
Gene Symbol:
TXNL4A
TXNL4A
Cleft Palate
0.400
Biomarker
GENOMICS_ENGLAND
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
25434003
2014
×
Entrez Id:
23483
Gene Symbol:
TGDS
TGDS
Cleft Palate
0.400
Biomarker
GENOMICS_ENGLAND
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
25480037
2014
×
Entrez Id:
6628
Gene Symbol:
SNRPB
SNRPB
Cleft Palate
0.400
Biomarker
GENOMICS_ENGLAND
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
25047197
2014
×
Entrez Id:
1298
Gene Symbol:
COL9A2
COL9A2
Cleft Palate
0.400
Biomarker
GENOMICS_ENGLAND
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
21671392
2011
×
Entrez Id:
1297
Gene Symbol:
COL9A1
COL9A1
Cleft Palate
0.400
Biomarker
GENOMICS_ENGLAND
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.
21421862
2011
×
Entrez Id:
6231
Gene Symbol:
RPS26
RPS26
Cleft Palate
0.400
Biomarker
GENOMICS_ENGLAND
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
20116044
2010
×
Entrez Id:
3759
Gene Symbol:
KCNJ2
KCNJ2
Cleft Palate
0.400
Biomarker
GENOMICS_ENGLAND
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).
12163457
2002