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Intellectual disability

Gene: SPOP

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Associated with Nabais Sa-de Vries syndrome in OMIM, and a probable gene for SPOP-related Neurodevelopmental Disorder in G2P.

At least 7 unrelated individuals with mild-severe ID, associated with de novo missense variants in the SPOP gene. Additional variable features include craniofacial dysmorphisms, cardiovascular abnormalities, hearing impairment, and endocrine abnormalities. Functional studies show differing effects of the variants (gain-of-function or dominant-negative) that correspond to differences in additional clinical manifestations.
Created: 20 Aug 2020, 10:34 a.m. | Last Modified: 20 Aug 2020, 1:33 p.m.
Panel Version: 3.262

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
  • Expert Review Amber
Phenotypes
  • Nabais Sa-de Vries syndrome, type 1, 618828
  • Nabais Sa-de Vries syndrome, type 2, 618829
Tags
for-review
OMIM
602650
Clinvar variants
Variants in SPOP
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

20 Aug 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SPOP were changed from Intellectual disability; dysmorphism; microcephaly; macrocephaly to Nabais Sa-de Vries syndrome, type 1, 618828; Nabais Sa-de Vries syndrome, type 2, 618829

20 Aug 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: SPOP.

20 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: spop has been classified as Amber List (Moderate Evidence).

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