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Hereditary neuropathy NOT PMP22 copy number

Gene: EMILIN1

No list

EMILIN1 (elastin microfibril interfacer 1)
EnsemblGeneIds (GRCh38): ENSG00000138080
EnsemblGeneIds (GRCh37): ENSG00000138080
OMIM: 130660, Gene2Phenotype
EMILIN1 is in 4 panels

1 review

Zornitza Stark (Australian Genomics)

I don't know

Missense mutations identified in two families. First family, proband presented with ascending and descending aortic aneurysms, bilateral lower leg and foot sensorimotor peripheral neuropathy, arthropathy, and increased skin elasticity. Variant segregated with disease in the affected proband, mother, and son. Second family, father and three affected children showed amyotrophy and weakness of the distal lower limbs, dating back to early childhood. Some functional studies performed in patient fibroblasts and zebrafish, however these were not conclusive as the two missense mutations are at different locations within the protein.
Sources: Literature
Created: 1 Jul 2020, 10:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Peripheral neuropathy; aortic aneurysm

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Peripheral neuropathy
  • aortic aneurysm
OMIM
130660
Clinvar variants
Variants in EMILIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: EMILIN1 was added gene: EMILIN1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: EMILIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EMILIN1 were set to 31978608; 26462740 Phenotypes for gene: EMILIN1 were set to Peripheral neuropathy; aortic aneurysm Review for gene: EMILIN1 was set to AMBER