Inherited white matter disorders

Gene: SON

Red List (low evidence)

SON (SON DNA binding protein)
EnsemblGeneIds (GRCh38): ENSG00000159140
EnsemblGeneIds (GRCh37): ENSG00000159140
OMIM: 182465, Gene2Phenotype
SON is in 6 panels

1 review

Ellen Thomas (Genomics England Curator)

Green on ID panel, can include white matter abnormalities according to OMIM.
Sources: Other
Created: 26 Mar 2019, 9:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ZTTK SYNDROME

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • ZTTK SYNDROME
OMIM
182465
Clinvar variants
Variants in SON
Penetrance
None
Panels with this gene

History Filter Activity

26 Mar 2019, Gel status: 1

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

Ellen Thomas (Genomics England Curator)

gene: SON was added gene: SON was added to Inherited white matter disorders. Sources: Other Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SON were set to ZTTK SYNDROME