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Intellectual disability

Gene: SCAF4

Amber List (moderate evidence)

SCAF4 (SR-related CTD associated factor 4)
EnsemblGeneIds (GRCh38): ENSG00000156304
EnsemblGeneIds (GRCh37): ENSG00000156304
OMIM: 616023, Gene2Phenotype
SCAF4 is in 3 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: At least 8 unrelated individuals reported in PMID:32730804 with a neurodevelopmental disorder characterised by DD/ID, mostly in the mild range (severe in only one individual).

Rating Amber in view of the mild ID presentation. This may be reviewed if further cases are reported with more severe manifestations of relevant phenotypes.
Created: 9 Oct 2020, 11:17 a.m. | Last Modified: 9 Oct 2020, 11:17 a.m.
Panel Version: 3.412
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.
Created: 9 Oct 2020, 11 a.m. | Last Modified: 9 Oct 2020, 11 a.m.
Panel Version: 3.411

Zornitza Stark (Australian Genomics)

Green List (high evidence)

> 5 variants reported in individuals with variable neurodevelopmental disorder characterized by intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies. Suggest also adding to epilepsy panel.
Created: 4 Aug 2020, 10:55 a.m. | Last Modified: 4 Aug 2020, 10:55 a.m.
Panel Version: 3.226

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
intellectual disability; seizures; behavioral abnormalities

Publications

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

Eleanor Williams (Genomics England Curator)

Conference talk/abstract from ESHG2020 - C02.1 - SCAF4 loss of function in humans and Drosophila implicates mRNA transcriptional termination in neurodevelopmental disorders - Fliedner et al - report 9 unrelated patients with likely pathogenic variants in SCAF4 and mild developmental delay and intellectual disability. 8 de novo. 1 inherited. Seizures, skeletal, renal and cardiac anomalies were also seen.
Sources: Literature
Created: 12 Jun 2020, 7:44 p.m. | Last Modified: 13 Jun 2020, 7:24 a.m.
Panel Version: 3.90

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • SCAF4-related Neurodevelopmental Disorder
  • Intellectual disability
  • Seizures
  • Behavioural abnormalities
Tags
watchlist
OMIM
616023
Clinvar variants
Variants in SCAF4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SCAF4 were changed from to SCAF4-related Neurodevelopmental Disorder; Intellectual disability; Seizures; Behavioural abnormalities

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

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SCAF4 were set to

23 Jun 2020, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist tag was added to gene: SCAF4.

12 Jun 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: SCAF4 was added gene: SCAF4 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown