Gene Symbol:
KMT2B
HGNC:15840
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
19q13.12
Filters:

Definitive classifications

dystonia 28, childhood-onset
Submitted as: OMIM:617284
AD
05/22/2017
Evaluated
03/02/2021
Submitted
complex neurodevelopmental disorder with motor features
AD
04/17/2023
Evaluated
04/21/2024
Submitted

Strong classifications

dystonia 28, childhood-onset
Submitted as: OMIM:617284
AD
02/18/2021
Evaluated
03/31/2021
Submitted
dystonia 28, childhood-onset
Submitted as: OMIM:617284
AD
04/12/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

dystonia 28, childhood-onset
Submitted as: Orphanet:589618
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

intellectual developmental disorder, autosomal dominant 68
Submitted as: OMIM:619934
Unknown
09/16/2022
Evaluated
11/30/2023
Submitted

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