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Hand and foot malformations

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Limb anomalies, such as brachydactyly is a prominent feature of the condition.
Created: 23 Sep 2021, 1:36 a.m. | Last Modified: 23 Sep 2021, 1:36 a.m.
Panel Version: 0.47

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 3 MIM#614608

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Sep 2021, 1:36 a.m.
Last Modified: 23 Sep 2021, 1:36 a.m.
Panel version: 0.47

History Filter Activity

23 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

23 Sep 2021, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: SMARCB1 were set to

23 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

22 Sep 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SMARCB1 was added gene: SMARCB1 was added to Hand and foot malformation. Sources: Expert list Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMARCB1 were set to Coffin-Siris syndrome 3 MIM#614608