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| Angelman Rett like syndromes v2.3 | KAT6A | Zornitza Stark Classified gene: KAT6A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v2.3 | KAT6A | Zornitza Stark Gene: kat6a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v2.2 | KAT6A |
Simran Boparai gene: KAT6A was added gene: KAT6A was added to Angelman Rett like syndromes. Sources: Literature Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KAT6A were set to 33386251 Phenotypes for gene: KAT6A were set to Rett like; KAT6A-related intellectual disability Penetrance for gene: KAT6A were set to Complete Mode of pathogenicity for gene: KAT6A was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: KAT6A was set to AMBER Added comment: This study evaluated seven individuals with de novo heterozygous variants in exon 17 of KAT6A, who exhibited clinical features overlapping with Rett syndrome. Of the seven, two were classified as having atypical Rett syndrome (Neul’s revised diagnostic criteria), while the remaining five were diagnosed with KAT6A-related intellectual disability presenting with Rett-like features. Sources: Literature |
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