×
Entrez Id:
5515
Gene Symbol:
PPP2CA
PPP2CA
0.400
Biomarker
phenotype
GENOMICS_ENGLAND
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
30595372
2019
×
Entrez Id:
57178
Gene Symbol:
ZMIZ1
ZMIZ1
0.400
GeneticVariation
phenotype
CLINVAR
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
30639322
2019
×
Entrez Id:
51227
Gene Symbol:
PIGP
PIGP
0.400
Biomarker
phenotype
GENOMICS_ENGLAND
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.
31139695
2019
×
Entrez Id:
197258
Gene Symbol:
FCSK
FCSK
0.400
Biomarker
phenotype
GENOMICS_ENGLAND
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
30503518
2018
×
Entrez Id:
57178
Gene Symbol:
ZMIZ1
ZMIZ1
0.400
Biomarker
phenotype
GENOMICS_ENGLAND
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
27479843
2016
×
Entrez Id:
57178
Gene Symbol:
ZMIZ1
ZMIZ1
0.400
Biomarker
phenotype
GENOMICS_ENGLAND
A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations.
26163108
2015
×
Entrez Id:
197258
Gene Symbol:
FCSK
FCSK
0.400
Biomarker
phenotype
HPO
×
Entrez Id:
51227
Gene Symbol:
PIGP
PIGP
0.400
Biomarker
phenotype
HPO
×
Entrez Id:
5515
Gene Symbol:
PPP2CA
PPP2CA
0.400
Biomarker
phenotype
HPO
×
Entrez Id:
7360
Gene Symbol:
UGP2
UGP2
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
31820119
2020
×
Entrez Id:
51399
Gene Symbol:
TRAPPC4
TRAPPC4
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
31794024
2020
×
Entrez Id:
84148
Gene Symbol:
KAT8
KAT8
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
31794431
2020
×
Entrez Id:
2806
Gene Symbol:
GOT2
GOT2
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
31422819
2019
×
Entrez Id:
1024
Gene Symbol:
CDK8
CDK8
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
30905399
2019
×
Entrez Id:
5430
Gene Symbol:
POLR2A
POLR2A
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
31353023
2019
×
Entrez Id:
11342
Gene Symbol:
RNF13
RNF13
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.
30595371
2019
×
Entrez Id:
1822
Gene Symbol:
ATN1
ATN1
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
30827498
2019
×
Entrez Id:
6602
Gene Symbol:
SMARCD1
SMARCD1
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
30879640
2019
×
Entrez Id:
8884
Gene Symbol:
SLC5A6
SLC5A6
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects.
29669219
2018
×
Entrez Id:
23036
Gene Symbol:
ZNF292
ZNF292
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports.
29904178
2018
×
Entrez Id:
10943
Gene Symbol:
MSL3
MSL3
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.
30224647
2018
×
Entrez Id:
5917
Gene Symbol:
RARS1
RARS1
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Mutations in RARS cause hypomyelination.
24777941
2014
×
Entrez Id:
4330
Gene Symbol:
MN1
MN1
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton.
15870292
2005
×
Entrez Id:
513
Gene Symbol:
ATP5F1D
ATP5F1D
0.100
CausalMutation
phenotype
CLINVAR
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
29478781
2018
×
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