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Genetic epilepsy syndromes

Gene: NEUROD2

No list

NEUROD2 (neuronal differentiation 2)
EnsemblGeneIds (GRCh38): ENSG00000171532
EnsemblGeneIds (GRCh37): ENSG00000171532
OMIM: 601725, Gene2Phenotype
NEUROD2 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two unrelated individuals with de novo missense variants in this gene, two animal models.
Sources: Expert list
Created: 24 Jan 2020, 10:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 72, MIM# 618374

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Epileptic encephalopathy, early infantile, 72, MIM# 618374
OMIM
601725
Clinvar variants
Variants in NEUROD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: NEUROD2 was added gene: NEUROD2 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: NEUROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NEUROD2 were set to 30323019; 16504944 Phenotypes for gene: NEUROD2 were set to Epileptic encephalopathy, early infantile, 72, MIM# 618374 Review for gene: NEUROD2 was set to GREEN gene: NEUROD2 was marked as current diagnostic