Gene Symbol:
SETD2
HGNC:18420
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
3p21.31
Filters:

ClinGen classifications

SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
AD
10/04/2023
Evaluated
04/21/2024
Submitted
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth
AD
10/04/2023
Evaluated
04/21/2024
Submitted

Invitae classifications

Luscan-Lumish syndrome
Submitted as: OMIM:616831
AD
06/30/2023
Evaluated
11/30/2023
Submitted
Rabin-Pappas syndrome
Submitted as: OMIM:620155
AD
06/30/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

Sotos syndrome
Submitted as: Orphanet:821
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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