Early onset or syndromic epilepsy
Gene: SETD1AComment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).Created: 20 Oct 2020, 3:54 p.m. | Last Modified: 20 Oct 2020, 3:54 p.m.
Panel Version: 2.194
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.
Panel Version: 2.491
Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for intellectual disability. At least 4 variants reported, 3 de novo and 1 segregating in a family.Created: 31 Mar 2020, 4:40 p.m. | Last Modified: 31 Mar 2020, 4:54 p.m.
Panel Version: 2.29
Four unrelated families reported: in three, the variants occurred de novo, and in the fourth, it segregated with disease. Some functional data.
Sources: Expert listCreated: 25 Jan 2020, 3:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: SETD1A.
Source Expert Review Green was added to SETD1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: SETD1A were changed from Epilepsy to Epilepsy, early-onset, with or without developmental delay, 618832
Gene: setd1a has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: SETD1A.
Gene: setd1a has been classified as Green List (High Evidence).
gene: SETD1A was added gene: SETD1A was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETD1A were set to 31197650 Phenotypes for gene: SETD1A were set to Epilepsy Review for gene: SETD1A was set to GREEN gene: SETD1A was marked as current diagnostic