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Growth failure in early childhood v2.33 | KDM6A |
Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: KDM6A. Tag Q1_23_expert_review was removed from gene: KDM6A. |
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Growth failure in early childhood v2.33 | KDM6A | Catherine Snow commented on gene: KDM6A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.29 | KDM6A | Arina Puzriakova Publications for gene: KDM6A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.28 | KDM6A |
Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: KDM6A. Tag Q1_23_expert_review tag was added to gene: KDM6A. |
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Growth failure in early childhood v2.28 | KDM6A | Arina Puzriakova reviewed gene: KDM6A: Rating: ; Mode of pathogenicity: None; Publications: 23913813, 29914387, 31654559, 33674768; Phenotypes: Kabuki syndrome 2, OMIM:300867; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.28 | KDM6A | Arina Puzriakova Phenotypes for gene: KDM6A were changed from Kabuki to Kabuki syndrome 2, OMIM:300867 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.5 | KDM6A | Eleanor Williams reviewed gene: KDM6A: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | KDM6A | Rebecca Foulger reviewed gene: KDM6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.22 | KDM6A |
Rebecca Foulger Source Expert Review Red was added to KDM6A. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.1 | KDM6A |
Ellen McDonagh gene: KDM6A was added gene: KDM6A was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: KDM6A were set to Kabuki |