Gene Symbol:
SMC1A
HGNC:11111
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp11.22
Filters:

ClinGen classifications

X-linked complex neurodevelopmental disorder
XL
06/19/2019
Evaluated
10/18/2023
Submitted

Invitae classifications

developmental and epileptic encephalopathy, 85, with or without midline brain defects
Submitted as: OMIM:301044
XL
05/03/2023
Evaluated
11/30/2023
Submitted
Cornelia de Lange syndrome 2
Submitted as: OMIM:300590
XL
01/11/2022
Evaluated
11/30/2023
Submitted

Orphanet classifications

Cornelia de Lange syndrome
Submitted as: Orphanet:199
AD
09/14/2021
Evaluated
09/14/2021
Submitted
atypical Rett syndrome
Submitted as: Orphanet:3095
AD
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

Cornelia de Lange syndrome 2
Submitted as: OMIM:300590
XLD
07/22/2015
Evaluated
11/25/2020
Submitted
Cornelia de Lange syndrome 2
Submitted as: OMIM:300590
XL
07/22/2015
Evaluated
09/11/2023
Submitted

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