Gene Symbol:
SETD5
HGNC:25566
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
3p25.3
Filters:

Definitive classifications

intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Submitted as: OMIM:615761
AD
07/22/2015
Evaluated
09/11/2023
Submitted
syndromic complex neurodevelopmental disorder
AD
07/27/2023
Evaluated
04/21/2024
Submitted

Strong classifications

intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Submitted as: OMIM:615761
AD
07/05/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Submitted as: Orphanet:404440
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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