Fetal anomalies
Gene: SETD1A

SETD1A (SET domain containing 1A)
EnsemblGeneIds (GRCh38): ENSG00000099381
EnsemblGeneIds (GRCh37): ENSG00000099381
OMIM: 611052, Gene2Phenotype
SETD1A is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

OMIM has assigned a second phenotype in relation to the syndromic ID cohort reported in PMID 32346159. All variants were predicted to disrupt or delete the SET catalytic domain, and LOF is the established mechanism.

In addition, there are 4 families reported with a predominantly seizure phenotype without ID, PMID 31197650. All the variants are missense and mechanism of pathogenicity is not clearly established, hence it is difficult to know whether these are two distinct conditions or part of a spectrum of severity for SETD1A-related disorders.

Presentation of both disorders is typically post-natal.
Created: 21 Oct 2020, 10:09 p.m. | Last Modified: 28 Jan 2022, 3:33 a.m.

Panel Version: 0.2865

19 unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype, primarily manifesting and ID and seizures. LOF mechanism supported by functional data. Three mouse models.

SNPs in this gene have also been associated with risk of developing schizophrenia.
Sources: Literature
Created: 2 Oct 2020, 11:18 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, early-onset, with or without developmental delay, MIM# 618832; Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056

Publications

Created: 2 Oct 2020, 11:18 p.m.
Last Modified: 28 Jan 2022, 3:33 a.m.
Panel version: 0.2865

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Genomics England PanelApp
Literature

Phenotypes

Epilepsy, early-onset, with or without developmental delay, MIM# 618832
Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056

OMIM

611052

Clinvar variants

Variants in SETD1A

Penetrance

None

Publications

Panels with this gene