Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.440 GeneticVariation disease BEFREE The comparison of the clinical features between the 19 SLC2A1 mutated and the 226 non-mutated patients revealed that the onset of epilepsy within the first year of life (when associated with developmental delay or other neurological manifestations), the association of epilepsy with PD and acquired microcephaly are more common in mutated subjects. 30895386 2019
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
0.440 GeneticVariation disease BEFREE We report five patients with non-progressive congenital ataxia and psychomotor delay, 4/5 harboring novel heterozygous missense variants in SPTBN2 and one patient with compound heterozygous SPTBN2 variants. 31066025 2019
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
0.440 GeneticVariation disease BEFREE Our findings indicate that SPTBN2 mutations may be associated with infantile-onset cerebellar ataxia accompanied with global developmental delay. 30898343 2019
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
0.440 Biomarker disease GENOMICS_ENGLAND Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain. 28636205 2017
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.440 Biomarker disease GENOMICS_ENGLAND A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia. 27725288 2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.440 CausalMutation disease CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684 2015
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
0.440 GeneticVariation disease BEFREE Our findings are compatible with the concept of truncating SPTBN2 mutations acting recessively, which is supported by disease expression in homozygous, but not heterozygous, knockout mice, ataxia in Beagle dogs with a homozygous frameshift mutation and, very recently, a homozygous SPTBN2 nonsense mutation underlying infantile ataxia and psychomotor delay in a human family. 23838597 2014
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.440 GeneticVariation disease BEFREE Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and microcephaly, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies. 25022942 2014
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
0.440 GeneticVariation disease BEFREE The authors present the first case of infantile-onset spinocerebellar ataxia associated with a novel SPTBN2 mutation (transition C>T at nucleotide position 1438), the proband having a much more severe phenotype with global developmental delay, hypotonia, tremor, nystagmus, and facial myokymia. 22914369 2013
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.440 CausalMutation disease CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.440 CausalMutation disease CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602 2011
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.440 GeneticVariation disease BEFREE A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development. 17489814 2007
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.440 GeneticVariation disease BEFREE Fifteen children presenting with infantile seizures, acquired microcephaly, and developmental delay were found to have novel heterozygous mutations in the GLUT1 (SLC2A1). 10980529 2000
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.440 Biomarker disease HPO
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
0.440 Biomarker disease HPO
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
0.420 GeneticVariation disease BEFREE Notably, pathogenic substitutions of the homologous Gly77 residue including an identical variant (p.Gly77Arg, p.Gly77Val, p.Gly77Ser, p.Gly77Ala) of GNB1, a paralog of GNB2, was reported in individuals with global developmental delay and hypotonia. 31698099 2019
Entrez Id: 23334
Gene Symbol: SZT2
SZT2
0.420 GeneticVariation disease BEFREE Our results expand the genotype and phenotypes of SZT2-related DEEs, suggesting that SZT2 mutations play a role in developmental delay and epileptic encephalopathy, with high susceptibility to SE and relatively specific MRI findings. 31397114 2019
Entrez Id: 10735
Gene Symbol: STAG2
STAG2
0.420 GeneticVariation disease BEFREE To date, only 10 STAG2 pathogenic variants (four nonsense, four missense, and two frameshift) have been reported in patients with multiple congenital anomalies, ID, and DD. 30765867 2019
Entrez Id: 23334
Gene Symbol: SZT2
SZT2
0.420 GeneticVariation disease BEFREE Mutations in SZT2 have been reported in very few patients and features range from mild to moderate intellectual disability without seizures to severe intellectual disability with epileptic encephalopathies with severe developmental delay. 30359774 2019
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
0.420 GeneticVariation disease BEFREE We report a six-year-old boy who presented with short stature, microcephaly, dysmorphic features, and developmental delay and who was identified with a terminal deletion of 15q26.2q26.3 containing the insulin-like growth factor receptor (IGF1R) gene in addition to a terminal duplication of the 4q35.1q35.2 region. 28720553 2017
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
0.420 GeneticVariation disease BEFREE Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. 28087732 2017
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
0.420 Biomarker disease GENOMICS_ENGLAND Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. 28087732 2017
Entrez Id: 10735
Gene Symbol: STAG2
STAG2
0.420 GeneticVariation disease BEFREE De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. 28296084 2017
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.420 GeneticVariation disease BEFREE A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. 27916450 2017
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
0.420 CausalMutation disease CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016