Epileptic encephalopathy
Gene: SIK1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Mechanism may be activating (G2P), but truncating or missense mutations still relevant.Created: 29 Jan 2016, 5:06 p.m.
Comment on phenotypes: Sourced from G2P and OMIMCreated: 21 Jan 2016, 1:08 p.m.
Comment on mode of inheritance: Confirmed and not on imprinted gene list.Created: 21 Jan 2016, 1:01 p.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for SIK1 were set to NEONATAL EPILEPSY SPECTRUM; Epileptic encephalopathy, early infantile, 30
Publications for SIK1 were set to PMID: 25839329
Mode of inheritance for SIK1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
SIK1 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
This proposed gene was validated and added to this panel
SIK1 was created by Reviewer_03
SIK1 was added to Epileptic encephalopathypanel. Sources: Expert Review