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Genetic Epilepsy

Gene: NEUROD2

Green List (high evidence)

NEUROD2 (neuronal differentiation 2)
EnsemblGeneIds (GRCh38): ENSG00000171532
EnsemblGeneIds (GRCh37): ENSG00000171532
OMIM: 601725, Gene2Phenotype
NEUROD2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated individuals with de novo missense variants in this gene, animal model.
Sources: Expert list
Created: 3 Jan 2020, 9:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
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

3 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: neurod2 has been classified as Green List (High Evidence).

3 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: neurod2 has been classified as Green List (High Evidence).

3 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NEUROD2 was added gene: NEUROD2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. 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 Phenotypes for gene: NEUROD2 were set to Epileptic encephalopathy, early infantile, 72, MIM# 618374 Review for gene: NEUROD2 was set to GREEN