Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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