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Intellectual disability

Gene: SATB1

Red List (low evidence)

SATB1 (SATB homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000182568
EnsemblGeneIds (GRCh37): ENSG00000182568
OMIM: 602075, Gene2Phenotype
SATB1 is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

I don't know

Conference talk/abstract from ESHG 2020 - Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder - Den Hoed et al - report 26 individuals with SATB1 variants, 17 of which have missense variants and 9 have truncating variants. 21 of 26 variants (80%) were confirmed to be de novo in origin. Patients showed a broad phenotypic spectrum, including ID and/or neurodevelopmental delay, epilepsy, dental abnormalities and aspecific brain MRI findings. Additionally, patients with missense variants are more severely affected than those with truncating variants.
No peer reviewed publication was found in PubMed relating to these results so recommend Amber rating for now.
Sources: Other
Created: 7 Jun 2020, 1:09 p.m. | Last Modified: 7 Jun 2020, 1:10 p.m.
Panel Version: 3.83

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

Phenotypes
intellectual disability

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • intellectual disability
Tags
watchlist
OMIM
602075
Clinvar variants
Variants in SATB1
Penetrance
None
Panels with this gene

History Filter Activity

23 Jun 2020, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist tag was added to gene: SATB1.

7 Jun 2020, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: SATB1 was added gene: SATB1 was added to Intellectual disability. Sources: Other Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SATB1 were set to intellectual disability Review for gene: SATB1 was set to AMBER