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Intellectual disability

Gene: SCAF4

Red List (low evidence)

SCAF4 (SR-related CTD associated factor 4)
EnsemblGeneIds (GRCh38): ENSG00000156304
EnsemblGeneIds (GRCh37): ENSG00000156304
OMIM: 616023, Gene2Phenotype
SCAF4 is in 1 panel

2 reviews

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
  • Literature
Tags
watchlist
OMIM
616023
Clinvar variants
Variants in SCAF4
Penetrance
None
Panels with this gene

History Filter Activity

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