Gene Symbol:
KAT6A
HGNC:13013
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
8p11.21
Filters:

Definitive classifications

autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Submitted as: OMIM:616268
AD
07/22/2015
Evaluated
09/11/2023
Submitted
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
AD
08/26/2021
Evaluated
10/27/2022
Submitted
syndromic intellectual disability
AD
10/05/2021
Evaluated
10/18/2023
Submitted

Strong classifications

autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Submitted as: OMIM:616268
AD
10/08/2020
Evaluated
11/09/2020
Submitted
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Submitted as: OMIM:616268
AD
03/20/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Submitted as: Orphanet:457193
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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