Deafness_IsolatedAndComplex
Gene: SPENEnsemblGeneIds (GRCh38): ENSG00000065526
EnsemblGeneIds (GRCh37): ENSG00000065526
OMIM: 613484, Gene2Phenotype
SPEN is in 7 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
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.
Hearing loss reported in ~10% of patients, uncommon phenotype
Sources: LiteratureCreated: 21 Sep 2021, 2:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Radio-Tartaglia syndrome MIM#619312
Publications
- PMID: 33596411
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Radio-Tartaglia syndrome MIM#619312
- OMIM
- 613484
- Clinvar variants
- Variants in SPEN
- Penetrance
- None
- Publications
-
- PMID: 33596411
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: spen has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: spen has been classified as Amber List (Moderate Evidence).
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 Deafness_IsolatedAndComplex. 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 AMBER