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| White matter disorders and cerebral calcification - narrow panel v2.9 | ELOVL1 | Sarah Leigh Tag Q4_21_rating was removed from gene: ELOVL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.9 | ELOVL1 | Sarah Leigh reviewed gene: ELOVL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.8 | ELOVL1 |
Sarah Leigh Source NHS GMS was added to ELOVL1. Source Expert Review Green was added to ELOVL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| White matter disorders and cerebral calcification - narrow panel v1.217 | ELOVL1 | Arina Puzriakova Entity copied from Hereditary spastic paraplegia - childhood onset v2.107 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.217 | ELOVL1 |
Arina Puzriakova gene: ELOVL1 was added gene: ELOVL1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list,Expert Review Amber missense, Q4_21_rating tags were added to gene: ELOVL1. Mode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELOVL1 were set to 23689133; 29496980; 30487246; 32123819 Phenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527 |
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