Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
CUI: C0008925
Disease: Cleft Palate
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
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0008925
Disease: Cleft Palate
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
CUI: C0008925
Disease: Cleft Palate
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
CUI: C0008925
Disease: Cleft Palate
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
CUI: C0008925
Disease: Cleft Palate
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
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.490 Biomarker GENOMICS_ENGLAND

Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.470 Biomarker GENOMICS_ENGLAND

Entrez Id: 4212
Gene Symbol: MEIS2
MEIS2
CUI: C0008925
Disease: Cleft Palate
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
CUI: C0008925
Disease: Cleft Palate
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
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.420 Biomarker GENOMICS_ENGLAND

Entrez Id: 3199
Gene Symbol: HOXA2
HOXA2
CUI: C0008925
Disease: Cleft Palate
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
CUI: C0008925
Disease: Cleft Palate
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
CUI: C0008925
Disease: Cleft Palate
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
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.410 Biomarker GENOMICS_ENGLAND

Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.410 Biomarker GENOMICS_ENGLAND

Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.410 Biomarker GENOMICS_ENGLAND

Entrez Id: 1822
Gene Symbol: ATN1
ATN1
CUI: C0008925
Disease: Cleft Palate
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
CUI: C0008925
Disease: Cleft Palate
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
CUI: C0008925
Disease: Cleft Palate
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
CUI: C0008925
Disease: Cleft Palate
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
CUI: C0008925
Disease: Cleft Palate
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
CUI: C0008925
Disease: Cleft Palate
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
CUI: C0008925
Disease: Cleft Palate
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
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.400 Biomarker GENOMICS_ENGLAND Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). 12163457

2002