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| Ichthyosis v0.36 | ELOVL1 | Zornitza Stark Marked gene: ELOVL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.36 | ELOVL1 | Zornitza Stark Gene: elovl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.36 | ELOVL1 | Zornitza Stark Phenotypes for gene: ELOVL1 were changed from to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.35 | ELOVL1 | Zornitza Stark Publications for gene: ELOVL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.34 | ELOVL1 | Zornitza Stark Mode of inheritance for gene: ELOVL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.12 | ELOVL1 | Bryony Thompson Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.12 | ELOVL1 | Bryony Thompson edited their review of gene: ELOVL1: Added comment: Ichthyosis is a prominent feature of the condition. 2 unrelated cases with an identical heterozygous de novo ELOVL1 mutation (c.494C>T, NM_001256399; p.S165F) not deriving from a founder allele. Enzyme activity abrogated in patient cells. Elovl1 -/- mice died shortly after birth due to epidermal barrier defects. Reduced very long chain fatty acids were reduced in tissues.; Changed publications: 30487246, 29496980, 23689133 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.12 | ELOVL1 | Bryony Thompson reviewed gene: ELOVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30487246, 29496980; Phenotypes: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.0 | ELOVL1 |
Zornitza Stark gene: ELOVL1 was added gene: ELOVL1 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ELOVL1 was set to Unknown |
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