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Severe microcephaly v2.184 | HIKESHI | Ivone Leong Classified gene: HIKESHI as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.184 | HIKESHI | Ivone Leong Added comment: Comment on list classification: Downgraded from Amber to Red as microcephaly is not severe enough in the patients and also only seen in Ashkenazi Jewish families. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.184 | HIKESHI | Ivone Leong Gene: hikeshi has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.183 | HIKESHI | Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.119 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.183 | HIKESHI |
Ivone Leong gene: HIKESHI was added gene: HIKESHI was added to Severe microcephaly. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIKESHI were set to 26545878; 28000699 Phenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, OMIM:616881 |