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| Intellectual disability syndromic and non-syndromic v0.5378 | HIKESHI | Zornitza Stark Marked gene: HIKESHI as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5378 | HIKESHI | Zornitza Stark Gene: hikeshi has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5378 | HIKESHI | Zornitza Stark Classified gene: HIKESHI as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5378 | HIKESHI | Zornitza Stark Gene: hikeshi has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5377 | HIKESHI |
Zornitza Stark gene: HIKESHI was added gene: HIKESHI was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIKESHI were set to 34111619; 26545878 Phenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, MIM# 616881 Review for gene: HIKESHI was set to GREEN Added comment: Over 10 individuals reported with recurrent homozygous c.160G>C;p.(Val54Leu) variant, high carrier frequency in the Ashkenazi Jewish population. Optic atrophy reported in several. Sources: Expert list |
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