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Fetal anomalies

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 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Fliedner-Zweier syndrome, MIM#620511

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 32730804- 11 individuals with SCAF4 variants, 9 are de novo. Present with mild to severe ID/Dev delay, most have seizures, 4 have cardiac defects, 4 have renal anomalies, 3 have urogenital anomalies, 6 have skeletal anomalies, 2 have GI anomalies.
Sources: Literature
Created: 15 Mar 2022, 12:19 a.m.

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

Phenotypes
Neurodevelopmental disorder, SCAF4-related MONDO#0700092

Publications

Details

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

History Filter Activity

17 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCAF4 were changed from Neurodevelopmental disorder MONDO#0700092, SCAF4-related to Fliedner-Zweier syndrome, MIM#620511

15 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scaf4 has been classified as Green List (High Evidence).

15 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCAF4 were changed from Neurodevelopmental disorder, SCAF4-related MONDO#0700092 to Neurodevelopmental disorder MONDO#0700092, SCAF4-related

15 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scaf4 has been classified as Green List (High Evidence).

15 Mar 2022, Gel status: 0

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

Lucy Spencer (Victorian Clinical Genetics Services)

gene: SCAF4 was added gene: SCAF4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCAF4 were set to PMID: 32730804 Phenotypes for gene: SCAF4 were set to Neurodevelopmental disorder, SCAF4-related MONDO#0700092 Review for gene: SCAF4 was set to GREEN