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  2. Early onset or syndromic epilepsy
  3. SCAF4
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Early onset or syndromic epilepsy

Gene: SCAF4

Green List (high evidence)
SCAF4 (SR-related CTD associated factor 4)
EnsemblGeneIds (GRCh38): ENSG00000156304
EnsemblGeneIds (GRCh37): ENSG00000156304
OMIM: 616023, Gene2Phenotype
SCAF4 is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.
Panel Version: 2.491
Created: 3 Mar 2022, 5:34 p.m.
Last Modified: 3 Mar 2022, 5:34 p.m.
Panel version: 2.491

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence to rate this gene Green at the next GMS panel update - sufficient number of unrelated cases presenting seizures due to distinct variants in SCAF4
Created: 9 Oct 2020, 11:32 a.m. | Last Modified: 9 Oct 2020, 11:32 a.m.
Panel Version: 2.166
Currently not associated with any phenotype in OMIM (last edited on 23/09/2014), but is a probable gene SCAF4-related Neurodevelopmental Disorder in Gen2Phen.

PMID: 32730804 (2020) - At least 8 unrelated patients with likely pathogenic variants in SCAF4 and mild DD/ID, behavioural abnormalities, and various skeletal, renal and cardiac anomalies. 7 de novo and 1 inherited variant. Seizures occurred in 4 individuals (50%) and included myoclonic seizures in two and intractable seizures in one.
Sources: Literature
Created: 9 Oct 2020, 11:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
SCAF4-related Neurodevelopmental Disorder; Intellectual disability; Seizures; Behavioural abnormalities

Publications

Created: 9 Oct 2020, 11:30 a.m.

Panel version: 2.165

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fliedner-Zweier syndrome, OMIM:620511
OMIM
616023
Clinvar variants
Variants in SCAF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Oct 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SCAF4 were changed from SCAF4-related Neurodevelopmental Disorder; Intellectual disability; Seizures; Behavioural abnormalities to Fliedner-Zweier syndrome, OMIM:620511

16 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked was removed from gene: SCAF4.

9 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: SCAF4.

3 Mar 2022, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag for-review was removed from gene: SCAF4.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to SCAF4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

9 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: scaf4 has been classified as Amber List (Moderate Evidence).

9 Oct 2020, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: SCAF4 was added gene: SCAF4 was added to Genetic epilepsy syndromes. Sources: Literature for-review tags were added to gene: SCAF4. Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCAF4 were set to 32730804 Phenotypes for gene: SCAF4 were set to SCAF4-related Neurodevelopmental Disorder; Intellectual disability; Seizures; Behavioural abnormalities Review for gene: SCAF4 was set to GREEN