Gene Symbol:
KDM5B
HGNC:18039
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1q32.1
Filters:

Ambry Genetics classifications

intellectual disability, autosomal recessive 65
Submitted as: OMIM:618109
AD
05/05/2022
Evaluated
08/19/2023
Submitted

ClinGen classifications

intellectual disability
AR
03/01/2022
Evaluated
04/21/2024
Submitted

Invitae classifications

Tourette syndrome
Submitted as: OMIM:137580
Unknown
12/28/2017
Evaluated
12/04/2020
Submitted
intellectual disability, autosomal recessive 65
Submitted as: OMIM:618109
AR
10/04/2021
Evaluated
11/30/2023
Submitted

Orphanet classifications

autosomal recessive non-syndromic intellectual disability
Submitted as: Orphanet:88616
AR
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

AD
11/21/2019
Evaluated
09/11/2023
Submitted

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