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Genetic Epilepsy

Gene: SON

Green List (high evidence)

SON (SON DNA binding protein)
EnsemblGeneIds (GRCh38): ENSG00000159140
EnsemblGeneIds (GRCh37): ENSG00000159140
OMIM: 182465, Gene2Phenotype
SON is in 8 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Seizures (in some patients) noted in OMIM

PMID: 37488749 - review of 79 patients, seizures not described

PMID: 27545680 - 11 of 20 individuals developed seizures and/or epilepsy with an age of onset ranging from 1 to 6 years
Sources: Literature
Created: 8 Feb 2024, 9:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
ZTTK syndrome MIM#617140

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ZTTK syndrome MIM#617140
OMIM
182465
Clinvar variants
Variants in SON
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

8 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

8 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

8 Feb 2024, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: son has been classified as Red List (Low Evidence).

8 Feb 2024, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: SON was added gene: SON was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SON were set to PMID: 37488749; 27545680 Phenotypes for gene: SON were set to ZTTK syndrome MIM#617140 Review for gene: SON was set to GREEN