Gene Symbol:
KANSL1
HGNC:24565
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
17q21.31
Filters:

Definitive classifications

Koolen-de Vries syndrome
Submitted as: OMIM:610443
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Koolen-de Vries syndrome
AD
02/18/2022
Evaluated
04/21/2024
Submitted

Strong classifications

Koolen-de Vries syndrome
Submitted as: OMIM:610443
AD
10/28/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

Koolen-de Vries syndrome due to a point mutation
Submitted as: Orphanet:363965
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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