White matter disorders and cerebral calcification - narrow panel
Gene: SCAF4EnsemblGeneIds (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 Serviceapproval.Created: 9 Mar 2022, 4:29 p.m. | Last Modified: 9 Mar 2022, 4:29 p.m.
Panel Version: 1.223
Arina Puzriakova (Genomics England Curator)
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 white matter anomalies associated with distinct variants in SCAF4Created: 9 Oct 2020, 11:55 a.m. | Last Modified: 9 Oct 2020, 11:55 a.m.
Panel Version: 1.20
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, seizures behavioural abnormalities, and various skeletal, renal and cardiac anomalies. 7 de novo and 1 inherited variant. Brain MRIs were performed in five individuals
showing nonspecific white matter anomalies in three of them. One other individual was diagnosed with pontocerebellar hypoplasia and a thin corpus callosum.
Sources: LiteratureCreated: 9 Oct 2020, 11:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SCAF4-related Neurodevelopmental Disorder; Intellectual disability; Seizures; Behavioural abnormalities
Publications
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
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
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked was removed from gene: SCAF4.
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: SCAF4.
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: SCAF4.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to SCAF4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: scaf4 has been classified as Amber List (Moderate Evidence).
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 White matter disorders and cerebral calcification - narrow panel. 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