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Fetal anomalies

Gene: SPOP

Amber List (moderate evidence)
SPOP (speckle type BTB/POZ protein)
EnsemblGeneIds (GRCh38): ENSG00000121067
EnsemblGeneIds (GRCh37): ENSG00000121067
OMIM: 602650, Gene2Phenotype
SPOP is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Natalie Canham (Liverpool Women's Hospital)

I don't know

Type 1, probably not. Type 2, only reported congenital anomalies - cardiac defects. Would therefore ?not merit an exome. Not clear when micro/macrocephaly (respectively) presents. One paper with 7 unrelated cases (two of type 1, five of type 2), several single case reports subsequently
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nabais Sa-de Vries syndrome, type 1, OMIM:618828; Nabais Sa-de Vries syndrome, type 2, OMIM:618829

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Nabais Sa-de Vries syndrome, type 1, OMIM:618828
  • Nabais Sa-de Vries syndrome, type 2, OMIM:618829
OMIM
602650
Clinvar variants
Variants in SPOP
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Nabais Sa-de Vries syndrome, type 1, OMIM:618828; Nabais Sa-de Vries syndrome, type 2, OMIM:618829 for gene: SPOP

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: SPOP was added gene: SPOP was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SPOP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted