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Fetal anomalies

Gene: EMILIN1

Amber List (moderate evidence)
EMILIN1 (elastin microfibril interfacer 1)
EnsemblGeneIds (GRCh38): ENSG00000138080
EnsemblGeneIds (GRCh37): ENSG00000138080
OMIM: 130660, Gene2Phenotype
EMILIN1 is in 4 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

Natalie Chandler (North Thames GLH)

I don't know

Not green on any panel. Only reviews for monoallelic form. Aus panelapp green on Aortopathy_Connective Tissue Disorders for biallelic, not on fetal panel. PMID 14701737 KO mouse show alterations in elastic fiber in aorta and skin. PMID 36351433 4 families - Variants segregated in all families, carriers.Fam 1. 2 affected, homozygous c.831dup consanguineousFam 2. 2 affected homozygous c.151del consanguineousFam 3. 1 affected compound hetFam 4. 1 affected homozygous c.1606C>T. In three individuals, prenatal ultrasound showed arterial tortuosity (F2:IV-3), a suspicion for aortic coarctation (F4:II-3), and/or renal hydronephrosis (F1:IV-1, F2-IV-2, and F2:IV-3).Five out of six individuals presented with fractures of the ribs, clavicle, acromion, metatarsal, or long bones such as the radius, ulna, and fibula (note only one mention of broken bone prenatally though).
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arterial tortuosity-bone fragility syndrome, MIM#620908

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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Arterial tortuosity-bone fragility syndrome, OMIM:620908
OMIM
130660
Clinvar variants
Variants in EMILIN1
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: EMILIN1 was added gene: EMILIN1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: EMILIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EMILIN1 were set to 14701737; 36351433 Phenotypes for gene: EMILIN1 were set to Arterial tortuosity-bone fragility syndrome, OMIM:620908