×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Overgrowth
0.100
GeneticVariation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Overgrowth
0.100
CausalMutation
CLINVAR
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
28941273
2018
×
Entrez Id:
894
Gene Symbol:
CCND2
CCND2
Overgrowth
0.100
GeneticVariation
CLINVAR
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
28941273
2018
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Overgrowth
0.100
GeneticVariation
CLINVAR
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
28941273
2018
×
Entrez Id:
627
Gene Symbol:
BDNF
BDNF
Overgrowth
0.100
GeneticVariation
CLINVAR
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
28397838
2018
×
Entrez Id:
497258
Gene Symbol:
BDNF-AS
BDNF-AS
Overgrowth
0.100
GeneticVariation
CLINVAR
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
28397838
2018
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Overgrowth
0.100
CausalMutation
CLINVAR
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.
28386848
2018
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Overgrowth
0.100
GeneticVariation
CLINVAR
Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.
28575650
2017
×
Entrez Id:
1106
Gene Symbol:
CHD2
CHD2
Overgrowth
0.100
GeneticVariation
CLINVAR
Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.
28960266
2017
×
Entrez Id:
57679
Gene Symbol:
ALS2
ALS2
Overgrowth
0.100
CausalMutation
CLINVAR
Prevalence and architecture of de novo mutations in developmental disorders.
28135719
2017
×
Entrez Id:
7862
Gene Symbol:
BRPF1
BRPF1
Overgrowth
0.100
CausalMutation
CLINVAR
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.
27939639
2017
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Overgrowth
0.100
GeneticVariation
CLINVAR
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
27431290
2017
×
Entrez Id:
22941
Gene Symbol:
SHANK2
SHANK2
Overgrowth
0.100
CausalMutation
CLINVAR
A critical role of spinal Shank2 proteins in NMDA-induced pain hypersensitivity.
28326932
2017
×
Entrez Id:
7319
Gene Symbol:
UBE2A
UBE2A
Overgrowth
0.100
GeneticVariation
CLINVAR
A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.
28611923
2017
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
Overgrowth
0.100
CausalMutation
CLINVAR
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
28940898
2017
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Overgrowth
0.100
CausalMutation
CLINVAR
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
27759909
2017
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Overgrowth
0.100
CausalMutation
CLINVAR
Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.
28602030
2017
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Overgrowth
0.100
CausalMutation
CLINVAR
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.
28359930
2017
×
Entrez Id:
3192
Gene Symbol:
HNRNPU
HNRNPU
Overgrowth
0.100
GeneticVariation
CLINVAR
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
28393272
2017
×
Entrez Id:
1654
Gene Symbol:
DDX3X
DDX3X
Overgrowth
0.100
CausalMutation
CLINVAR
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
28371085
2017
×
Entrez Id:
8085
Gene Symbol:
KMT2D
KMT2D
Overgrowth
0.100
CausalMutation
CLINVAR
KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.
27991736
2017
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Overgrowth
0.100
GeneticVariation
CLINVAR
CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).
27426476
2017
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Overgrowth
0.100
GeneticVariation
CLINVAR
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
28645799
2017
×
Entrez Id:
8085
Gene Symbol:
KMT2D
KMT2D
Overgrowth
0.100
CausalMutation
CLINVAR
Pilomatricoma Associated with Kabuki Syndrome.
27778401
2017
×
Entrez Id:
7204
Gene Symbol:
TRIO
TRIO
Overgrowth
0.100
CausalMutation
CLINVAR
An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio.
28928363
2017