×
Entrez Id:
49855
Gene Symbol:
SCAPER
SCAPER
0.100
CausalMutation
phenotype
CLINVAR
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.
30723319
2019
×
Entrez Id:
25942
Gene Symbol:
SIN3A
SIN3A
0.100
CausalMutation
phenotype
CLINVAR
Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.
30267900
2019
×
Entrez Id:
84294
Gene Symbol:
UTP23
UTP23
0.100
GeneticVariation
phenotype
CLINVAR
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
30125677
2019
×
Entrez Id:
5885
Gene Symbol:
RAD21
RAD21
0.100
GeneticVariation
phenotype
CLINVAR
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
30125677
2019
×
Entrez Id:
7701
Gene Symbol:
ZNF142
ZNF142
0.100
GeneticVariation
phenotype
CLINVAR
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
31036918
2019
×
Entrez Id:
54965
Gene Symbol:
PIGX
PIGX
0.100
CausalMutation
phenotype
CLINVAR
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
29127258
2018
×
Entrez Id:
5977
Gene Symbol:
DPF2
DPF2
0.100
CausalMutation
phenotype
CLINVAR
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
29429572
2018
×
Entrez Id:
8936
Gene Symbol:
WASF1
WASF1
0.100
CausalMutation
phenotype
CLINVAR
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
29961568
2018
×
Entrez Id:
1183
Gene Symbol:
CLCN4
CLCN4
0.100
CausalMutation
phenotype
CLINVAR
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
27550844
2018
×
Entrez Id:
84984
Gene Symbol:
CEP19
CEP19
0.100
CausalMutation
phenotype
CLINVAR
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
29127258
2018
×
Entrez Id:
7343
Gene Symbol:
UBTF
UBTF
0.100
GeneticVariation
phenotype
CLINVAR
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
29300972
2018
×
Entrez Id:
23498
Gene Symbol:
HAAO
HAAO
0.100
CausalMutation
phenotype
CLINVAR
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
28792876
2017
×
Entrez Id:
816
Gene Symbol:
CAMK2B
CAMK2B
0.100
CausalMutation
phenotype
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089
2017
×
Entrez Id:
57459
Gene Symbol:
GATAD2B
GATAD2B
0.100
CausalMutation
phenotype
CLINVAR
Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.
28077840
2017
×
Entrez Id:
815
Gene Symbol:
CAMK2A
CAMK2A
0.100
GeneticVariation
phenotype
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089
2017
×
Entrez Id:
815
Gene Symbol:
CAMK2A
CAMK2A
0.100
CausalMutation
phenotype
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089
2017
×
Entrez Id:
816
Gene Symbol:
CAMK2B
CAMK2B
0.100
GeneticVariation
phenotype
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089
2017
×
Entrez Id:
1630
Gene Symbol:
DCC
DCC
0.100
CausalMutation
phenotype
CLINVAR
Biallelic mutations in human DCC cause developmental split-brain syndrome.
28250456
2017
×
Entrez Id:
81689
Gene Symbol:
ISCA1
ISCA1
0.100
CausalMutation
phenotype
CLINVAR
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
28356563
2017
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
0.100
GeneticVariation
phenotype
CLINVAR
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
28940898
2017
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
CausalMutation
phenotype
CLINVAR
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
28942966
2017
×
Entrez Id:
253738
Gene Symbol:
EBF3
EBF3
0.100
CausalMutation
phenotype
CLINVAR
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
28017372
2017
×
Entrez Id:
1917
Gene Symbol:
EEF1A2
EEF1A2
0.100
CausalMutation
phenotype
CLINVAR
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
26795593
2016
×
Entrez Id:
57680
Gene Symbol:
CHD8
CHD8
0.100
CausalMutation
phenotype
CLINVAR
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.
26789910
2016
×
Entrez Id:
128989
Gene Symbol:
TANGO2
TANGO2
0.100
CausalMutation
phenotype
CLINVAR
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
26805781
2016