Gene Symbol:
KMT2D
HGNC:7133
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12q13.12
Filters:

Definitive classifications

Kabuki syndrome 1
Submitted as: OMIM:147920
AD
10/22/2017
Evaluated
03/02/2021
Submitted
Kabuki syndrome 1
Submitted as: OMIM:147920
AD
06/01/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
AD
10/21/2021
Evaluated
10/18/2023
Submitted
Kabuki syndrome 1
Submitted as: OMIM:147920
AD
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

Kabuki syndrome 1
Submitted as: OMIM:147920
AD
10/14/2023
Evaluated
11/30/2023
Submitted
branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
Submitted as: OMIM:620186
AD
03/27/2023
Evaluated
11/30/2023
Submitted

Moderate classifications

choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
AD
05/10/2022
Evaluated
06/30/2023
Submitted

Supportive classifications

Kabuki syndrome
Submitted as: Orphanet:2322
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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