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  3. SIAH1
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Fetal anomalies

Gene: SIAH1

Amber List (moderate evidence)
SIAH1 (siah E3 ubiquitin protein ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000196470
EnsemblGeneIds (GRCh37): ENSG00000196470
OMIM: 602212, Gene2Phenotype
SIAH1 is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Esther Kinning (NHS Greater Glasgow and Clyde)

I don't know

VUS seen in an R14 case presenting with multiple congenital anomalies, cystic hygroma, pulmonary hypoplasia, small dysplastic kidneys, facial dysmorphism, absent nipples, short arms and overlapping toes. No other reports with structural anomalies. No antenatal reports
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Buratti-Harel syndrome, MIM#619314

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Buratti-Harel syndrome, OMIM:619314
OMIM
602212
Clinvar variants
Variants in SIAH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SIAH1 was added gene: SIAH1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SIAH1 were set to 32430360 Phenotypes for gene: SIAH1 were set to Buratti-Harel syndrome, OMIM:619314