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Intellectual disability

Gene: SPOP

No list

SPOP (speckle type BTB/POZ protein)
EnsemblGeneIds (GRCh38): ENSG00000121067
EnsemblGeneIds (GRCh37): ENSG00000121067
OMIM: 602650, Gene2Phenotype
SPOP is in 2 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seven individuals reported with de novo missense variants in this gene. Gain-of-function variants associated with microcephaly whereas dominant-negative variants associated with macrocephaly.
Sources: Literature
Created: 1 Mar 2020, 5:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; dysmorphism; microcephaly; macrocephaly

Publications

Mode of pathogenicity
Other

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Intellectual disability
  • dysmorphism
  • microcephaly
  • macrocephaly
OMIM
602650
Clinvar variants
Variants in SPOP
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

1 Mar 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SPOP was added gene: SPOP was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: SPOP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPOP were set to 32109420 Phenotypes for gene: SPOP were set to Intellectual disability; dysmorphism; microcephaly; macrocephaly Mode of pathogenicity for gene: SPOP was set to Other Review for gene: SPOP was set to GREEN gene: SPOP was marked as current diagnostic