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Intellectual disability syndromic and non-syndromic

Gene: SMARCB1

Green List (high evidence)

SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1)
EnsemblGeneIds (GRCh38): ENSG00000099956
EnsemblGeneIds (GRCh37): ENSG00000099956
OMIM: 601607, Gene2Phenotype
SMARCB1 is in 15 panels

2 reviews

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

This is a well-established ID gene
Created: 5 Oct 2023, 4:21 a.m. | Last Modified: 5 Oct 2023, 4:21 a.m.
Panel Version: 0.5549

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome MONDO:0015452

Publications

Claire Fryer-Smith (University of Melbourne)

Green List (high evidence)

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges.

Missense and in-frame deletions are associated with CSS through GoF/DN effects (PMID:22426308; 29907796; 3175698).

LoF variants in SMARCB1 are associated with Rhabdoid tumor predisposition syndrome, which does not exhibit ID.
Created: 5 Oct 2023, 3:58 a.m. | Last Modified: 5 Oct 2023, 3:58 a.m.
Panel Version: 0.5549

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 3 (MIM# 614608)

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Coffin-Siris syndrome 3 (MIM# 614608)
  • MONDO:0015452
OMIM
601607
Clinvar variants
Variants in SMARCB1
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

6 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smarcb1 has been classified as Green List (High Evidence).

6 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMARCB1 were changed from to Coffin-Siris syndrome 3 (MIM# 614608); MONDO:0015452

6 Oct 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SMARCB1 were set to

6 Oct 2023, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: SMARCB1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

6 Oct 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SMARCB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMARCB1 was added gene: SMARCB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMARCB1 was set to Unknown