Aortopathy_Connective Tissue Disorders
Gene: EMILIN1EnsemblGeneIds (GRCh38): ENSG00000138080
EnsemblGeneIds (GRCh37): ENSG00000138080
OMIM: 130660, Gene2Phenotype
EMILIN1 is in 3 panels
3 reviews
Chern Lim (Victorian Clinical Genetics Services)
Phenotypes
Neuronopathy, distal hereditary motor, autosomal dominant 10, MIM#620080; Aortic aneurysm, MONDO:0005160, EMILIN1-related, AR.
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
GREEN for bi-allelic association.
Mono-allelic association: two families only, predominant issue was neuronopathy; however, aortic aneurysm also reported.Created: 1 Dec 2022, 4:53 a.m. | Last Modified: 1 Dec 2022, 4:53 a.m.
Panel Version: 1.74
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuronopathy, distal hereditary motor, type X, MIM# 620080; Peripheral neuropathy
Publications
Karina Sandoval (Victorian Clinical Genetics Services)
Bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, and transient osteopenia
4 families - Variants segregated in the all families, carriers
Fam 1. 2 affected, homozygous c.831dup consanguineous
Fam 2. 2 affected homozygous c.151del consanguineous
Fam 3. 1 affected chet
Fam 4. 1 affected homozygous c.1606C>T
Mouse models
All affected individuals presented with generalized arterial tortuosity and fractures
Sources: LiteratureCreated: 1 Dec 2022, 3:53 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Neuronopathy, distal hereditary motor, type X, MIM# 620080 Aortic aneurysm, MONDO:0005160, EMILIN2-related
Publications
- PMID: 36351433
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neuronopathy, distal hereditary motor, type X, MIM# 620080
- Arterial tortuosity-bone fragility syndrome, MIM# 620908
- OMIM
- 130660
- Clinvar variants
- Variants in EMILIN1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: EMILIN1 were changed from Neuronopathy, distal hereditary motor, type X, MIM# 620080 Aortic aneurysm, MONDO:0005160, EMILIN2-related to Neuronopathy, distal hereditary motor, type X, MIM# 620080; Arterial tortuosity-bone fragility syndrome, MIM# 620908
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: emilin1 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: EMILIN1 were set to PMID: 36351433
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: emilin1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Karina Sandoval (Victorian Clinical Genetics Services)gene: EMILIN1 was added gene: EMILIN1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: EMILIN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EMILIN1 were set to PMID: 36351433 Phenotypes for gene: EMILIN1 were set to Neuronopathy, distal hereditary motor, type X, MIM# 620080 Aortic aneurysm, MONDO:0005160, EMILIN2-related Review for gene: EMILIN1 was set to GREEN