Hand and foot malformations
Gene: SMARCE1EnsemblGeneIds (GRCh38): ENSG00000073584
EnsemblGeneIds (GRCh37): ENSG00000073584
OMIM: 603111, Gene2Phenotype
SMARCE1 is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least four cases reported with Coffin-Siris syndrome, with limb anomalies as a prominent feature of the phenotype.Created: 23 Sep 2021, 1:44 a.m. | Last Modified: 23 Sep 2021, 1:44 a.m.
Panel Version: 0.49
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 5 MIM#616938
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Coffin-Siris syndrome 5 MIM#616938
- OMIM
- 603111
- Clinvar variants
- Variants in SMARCE1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: smarce1 has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: SMARCE1 were set to
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: smarce1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SMARCE1 was added gene: SMARCE1 was added to Hand and foot malformation. Sources: Expert list Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMARCE1 were set to Coffin-Siris syndrome 5 MIM#616938