Early onset or syndromic epilepsy
Gene: SCAF4The 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
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 SCAF4Created: 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: LiteratureCreated: 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
Phenotypes for gene: SCAF4 were changed from SCAF4-related Neurodevelopmental Disorder; Intellectual disability; Seizures; Behavioural abnormalities to Fliedner-Zweier syndrome, OMIM:620511
Tag gene-checked was removed from gene: SCAF4.
Tag gene-checked tag was added to gene: SCAF4.
Tag for-review was removed from gene: SCAF4.
Source Expert Review Green was added to SCAF4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: scaf4 has been classified as Amber List (Moderate Evidence).
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