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| CAKUT v1.95 | KDM6A | Ivone Leong Classified gene: KDM6A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.95 | KDM6A | Ivone Leong Added comment: Comment on list classification: New gene added by expert reviewer. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on the evidence and review there is enough evidence to support a gene-disease association; therefore, this gene has been given Green status. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.95 | KDM6A | Ivone Leong Gene: kdm6a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.94 | KDM6A | Ivone Leong Mode of inheritance for gene: KDM6A was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.93 | KDM6A | Ivone Leong Phenotypes for gene: KDM6A were changed from Kabuki syndrome 2, MIM# 300867 to Kabuki syndrome 2, 300867 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.41 | KDM6A |
Zornitza Stark gene: KDM6A was added gene: KDM6A was added to CAKUT. Sources: Expert list Mode of inheritance for gene: KDM6A was set to Other Publications for gene: KDM6A were set to 23535010 Phenotypes for gene: KDM6A were set to Kabuki syndrome 2, MIM# 300867 Review for gene: KDM6A was set to GREEN Added comment: Renal malformations are a recognised feature of this syndrome. Sources: Expert list |
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