×
Entrez Id:
80856
Gene Symbol:
LNPK
LNPK
0.400
Biomarker
phenotype
GENOMICS_ENGLAND
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.
30032983
2018
×
Entrez Id:
197258
Gene Symbol:
FCSK
FCSK
0.400
Biomarker
phenotype
GENOMICS_ENGLAND
Here we describe two unrelated individuals who have pathogenic variants in FUK and who presented with severe developmental delays, encephalopathy, intractable seizures, and hypotonia .
30503518
2018
×
Entrez Id:
80856
Gene Symbol:
LNPK
LNPK
0.400
Biomarker
phenotype
HPO
×
Entrez Id:
197258
Gene Symbol:
FCSK
FCSK
0.400
Biomarker
phenotype
HPO
×
Entrez Id:
51227
Gene Symbol:
PIGP
PIGP
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.
31139695
2019
×
Entrez Id:
6844
Gene Symbol:
VAMP2
VAMP2
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
30929742
2019
×
Entrez Id:
1822
Gene Symbol:
ATN1
ATN1
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
To distinguish this subset of affected individuals from the DRPLA diagnosis, we suggest using the term CHEDDA (congenital hypotonia , epilepsy, developmental delay, digit abnormalities) to classify the condition.
30827498
2019
×
Entrez Id:
1656
Gene Symbol:
DDX6
DDX6
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
31422817
2019
×
Entrez Id:
1173
Gene Symbol:
AP2M1
AP2M1
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
31104773
2019
×
Entrez Id:
9488
Gene Symbol:
PIGB
PIGB
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
31256876
2019
×
Entrez Id:
5430
Gene Symbol:
POLR2A
POLR2A
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
We conclude that subtle variants that are central in functionally important domains of POLR2A cause a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia and developmental delay through a dominant-negative effect on pol-II-mediated transcription of DNA.
31353023
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:
80036
Gene Symbol:
TRPM3
TRPM3
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
De novo substitutions of TRPM3 cause intellectual disability and epilepsy.
31278393
2019
×
Entrez Id:
6602
Gene Symbol:
SMARCD1
SMARCD1
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Here, we report on five individuals with mutations in SMARCD1 ; the individuals present with developmental delay, intellectual disability, hypotonia , feeding difficulties, and small hands and feet.
30879640
2019
×
Entrez Id:
26523
Gene Symbol:
AGO1
AGO1
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
29346770
2018
×
Entrez Id:
80036
Gene Symbol:
TRPM3
TRPM3
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants.
29156220
2017
×
Entrez Id:
5455
Gene Symbol:
POU3F3
POU3F3
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features.
24550763
2014
×
Entrez Id:
81609
Gene Symbol:
SNX27
SNX27
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Loss of sorting nexin 27 contributes to excitatory synaptic dysfunction by modulating glutamate receptor recycling in Down's syndrome.
23524343
2013
×
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:
3708
Gene Symbol:
ITPR1
ITPR1
0.100
CausalMutation
phenotype
CLINVAR
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.
29663667
2018
×
Entrez Id:
8216
Gene Symbol:
LZTR1
LZTR1
0.100
CausalMutation
phenotype
CLINVAR
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
29469822
2018
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
0.100
GeneticVariation
phenotype
CLINVAR
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
28213671
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:
8506
Gene Symbol:
CNTNAP1
CNTNAP1
0.100
GeneticVariation
phenotype
CLINVAR
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
27668699
2017