×
Entrez Id:
4851
Gene Symbol:
NOTCH1
NOTCH1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3 -Null Background.
25914885
2019
×
Entrez Id:
8621
Gene Symbol:
CDK13
CDK13
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.
29222009
2018
×
Entrez Id:
23522
Gene Symbol:
KAT6B
KAT6B
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.
29226580
2018
×
Entrez Id:
55209
Gene Symbol:
SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
28866611
2018
×
Entrez Id:
89910
Gene Symbol:
UBE3B
UBE3B
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
29160006
2018
×
Entrez Id:
3190
Gene Symbol:
HNRNPK
HNRNPK
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.
28374925
2018
×
Entrez Id:
8621
Gene Symbol:
CDK13
CDK13
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
29021403
2018
×
Entrez Id:
57822
Gene Symbol:
GRHL3
GRHL3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.
28886269
2018
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.
28755360
2018
×
Entrez Id:
1947
Gene Symbol:
EFNB1
EFNB1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate.
28140668
2018
×
Entrez Id:
547
Gene Symbol:
KIF1A
KIF1A
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.
28708278
2018
×
Entrez Id:
55209
Gene Symbol:
SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
28881385
2018
×
Entrez Id:
894
Gene Symbol:
CCND2
CCND2
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
28941273
2018
×
Entrez Id:
22827
Gene Symbol:
PUF60
PUF60
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
28990276
2018
×
Entrez Id:
6774
Gene Symbol:
STAT3
STAT3
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID).
29180260
2018
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
28941273
2018
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
×
Entrez Id:
3000
Gene Symbol:
GUCY2D
GUCY2D
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.
29061346
2018
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern.
28916840
2018
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.
28386848
2018
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Osteogenesis imperfecta - A clinical update.
28625337
2018
×
Entrez Id:
64132
Gene Symbol:
XYLT2
XYLT2
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Homozygous XYLT2 variants as a cause of spondyloocular syndrome.
29136277
2018
×
Entrez Id:
22827
Gene Symbol:
PUF60
PUF60
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
28327570
2017
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
28941052
2017
×
Entrez Id:
23522
Gene Symbol:
KAT6B
KAT6B
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.
28696035
2017