| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ichthyosis v0.86 | ELOVL4 | Zornitza Stark Marked gene: ELOVL4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.86 | ELOVL4 | Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.86 | ELOVL4 | Zornitza Stark Classified gene: ELOVL4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.86 | ELOVL4 | Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.82 | ELOVL4 |
Ain Roesley gene: ELOVL4 was added gene: ELOVL4 was added to Ichthyosis. Sources: Literature Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELOVL4 were set to 22100072; 24571530 Phenotypes for gene: ELOVL4 were set to Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457) Penetrance for gene: ELOVL4 were set to unknown Review for gene: ELOVL4 was set to GREEN Added comment: PMID: 22100072; - 1x proband born of consanguineous parents with congenital ichthyosis, profound developmental delay, recalcitrant seizures, severe hypertonia in the upper and lower extremities > homozygous for a nonsense variant - 1x proband born of consanguineous parents with congenital ichthyosis, myoclonic seizures, profound motor delay > homozygous for a frameshift PMID: 24571530; - 1x consanguineous family with 3 affecteds with congenital ichthyosis - Intellectual disability and spastic quadriplegia were observed only in 1 of the patients > homozygous for a nonsense Sources: Literature |
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