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| Hereditary Neuropathy - complex v0.137 | EMILIN1 |
Karina Sandoval changed review comment from: 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; to: 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 |
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| Hereditary Neuropathy - complex v0.137 | EMILIN1 | Karina Sandoval reviewed gene: EMILIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36351433; Phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080, Peripheral neuropathy, aortic aneurysm; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.137 | EMILIN1 | Zornitza Stark Phenotypes for gene: EMILIN1 were changed from Peripheral neuropathy; aortic aneurysm to Neuronopathy, distal hereditary motor, type X, MIM# 620080; Peripheral neuropathy; aortic aneurysm | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.136 | EMILIN1 | Zornitza Stark edited their review of gene: EMILIN1: Changed phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080, Peripheral neuropathy, aortic aneurysm | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.67 | EMILIN1 | Zornitza Stark Marked gene: EMILIN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.67 | EMILIN1 | Zornitza Stark Gene: emilin1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.67 | EMILIN1 | Zornitza Stark Classified gene: EMILIN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.67 | EMILIN1 | Zornitza Stark Gene: emilin1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.66 | EMILIN1 |
Zornitza Stark gene: EMILIN1 was added gene: EMILIN1 was added to Hereditary Neuropathy - complex. 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 Added comment: 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 |
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