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  3. SPEN
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Congenital Heart Defect

Gene: SPEN

Green List (high evidence)
SPEN (spen family transcriptional repressor)
EnsemblGeneIds (GRCh38): ENSG00000065526
EnsemblGeneIds (GRCh37): ENSG00000065526
OMIM: 613484, Gene2Phenotype
SPEN is in 7 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 33596411
- 34 individuals with truncating variants in SPEN reported, most are de novo variants.
- Clinical profile includes developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.
- Authors showed haploinsufficiency of SPEN is associated with a distinctive DNA methylation episignature of the X chromosome in affected females.
Sources: Literature
Created: 21 Sep 2021, 2:04 a.m.

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

Phenotypes
Radio-Tartaglia syndrome MIM#619312

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 21 Sep 2021, 2:04 a.m.

Panel version: 0.129

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Radio-Tartaglia syndrome MIM#619312
OMIM
613484
Clinvar variants
Variants in SPEN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spen has been classified as Green List (High Evidence).

21 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spen has been classified as Green List (High Evidence).

21 Sep 2021, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: SPEN was added gene: SPEN was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPEN were set to PMID: 33596411 Phenotypes for gene: SPEN were set to Radio-Tartaglia syndrome MIM#619312 Review for gene: SPEN was set to GREEN gene: SPEN was marked as current diagnostic