Gene Symbol:
SMARCB1
HGNC:11103
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
22q11.23
Filters:

Definitive classifications

rhabdoid tumor predisposition syndrome 1
Submitted as: OMIM:609322
AD
10/14/2016
Evaluated
09/28/2021
Submitted
rhabdoid tumor predisposition syndrome 1
AD
10/12/2018
Evaluated
04/21/2024
Submitted
Coffin-Siris syndrome
AD
08/15/2023
Evaluated
04/21/2024
Submitted
AD
11/29/2016
Evaluated
01/17/2025
Submitted

Strong classifications

rhabdoid tumor predisposition syndrome 1
Submitted as: OMIM:609322
AD
03/04/2020
Evaluated
03/31/2021
Submitted
SMARCB1-related schwannomatosis
Submitted as: OMIM:162091
AD
07/30/2018
Evaluated
09/28/2021
Submitted
intellectual disability, autosomal dominant 15
Submitted as: OMIM:614608
AD
09/18/2020
Evaluated
11/30/2023
Submitted
rhabdoid tumor predisposition syndrome 1
Submitted as: OMIM:609322
AD
11/14/2022
Evaluated
11/30/2023
Submitted

Moderate classifications

intellectual disability, autosomal dominant 15
Submitted as: OMIM:614608
AD
07/30/2018
Evaluated
09/28/2021
Submitted

Supportive classifications

Coffin-Siris syndrome
Submitted as: Orphanet:1465
AD
09/14/2021
Evaluated
09/14/2021
Submitted
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial rhabdoid tumor
Submitted as: Orphanet:231108
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial multiple meningioma
Submitted as: Orphanet:263662
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

complex neurodevelopmental disorder
AD
10/09/2020
Evaluated
09/28/2021
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.