Fetal anomalies
Gene: SF1

SF1 (splicing factor 1)
EnsemblGeneIds (GRCh38): ENSG00000168066
EnsemblGeneIds (GRCh37): ENSG00000168066
OMIM: 601516, Gene2Phenotype
SF1 is in 3 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)

Red List (low evidence)

single paper, 15 cases, phenotype and variant calling appear to be in supplemental information which I cannot retrieve. Stated in main body that prenatal was uneventful except for two with polyhydramnios
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
neurodevelopmental disorder

Publications

40987292

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 Red

Phenotypes

neurodevelopmental disorder

OMIM

601516

Clinvar variants

Variants in SF1

Penetrance

None

Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes neurodevelopmental disorder for gene: SF1

9 Mar 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: SF1 was added gene: SF1 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: SF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Fetal anomalies Gene: SF1

2 reviews

Arina Puzriakova (Genomics England Curator)

Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.

Panel Version: 6.148