Limb disorders
Gene: SEM1EnsemblGeneIds (GRCh38): ENSG00000127922
EnsemblGeneIds (GRCh37): ENSG00000127922
OMIM: 601285, Gene2Phenotype
SEM1 is in 2 panels
4 reviews
Ellen McDonagh (Genomics England Curator)
Originally submitted as previous symbol SHFM1. The new HGNC-approved symbol is SEM1.Created: 17 Nov 2017, 5:53 p.m.
Louise Daugherty (Genomics England Curator)
Agree with Red rating,Originally submitted as DSS1 by external reviewer (not SHFM1), the new HGNC-approved symbol is SEM1. Although Split-hand/foot malformation-1 (disease acronym and previous gene symbol SHFM1) is a relevant phenotype to the Limb panel, Split-hand/foot malformation-1 represents a contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1 (new gene symbol SEM1), DLX5, and DLX6 genes and possible regulatory elements in the region. Evidence exists that SHFM1 can also be caused by heterozygous mutation in the DLX5 gene. This is not a monogeneic disorder.Created: 7 Nov 2018, 1:26 p.m.
Comment on mode of inheritance: added MOI suggested by expert reviewCreated: 5 Oct 2018, 4:10 p.m.
added tag polygenicCreated: 5 Apr 2018, 12:24 p.m.
Keep gene Red. From OMIM: split-hand/foot malformation-1 (SHFM1) represent a contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1 (new gene symbol SEM1), DLX5, and DLX6 genes and possible regulatory elements in the region. Evidence exists that SHFM1 can also be caused by heterozygous mutation in the DLX5 gene.Created: 5 Apr 2018, 12:24 p.m.
Comment on list classification: changed status from grey to red- this is a gene with protein productCreated: 24 Mar 2017, 1:04 p.m.
New approved gene symbol is SEM1Created: 24 Mar 2017, 12:55 p.m.
added new-gene-name tagCreated: 9 Dec 2016, 4:41 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Split hand/foot malformation 1, 183600
Sarah Leigh (Genomics England Curator)
Comment on list classification: This is a locus not a geneCreated: 29 Jul 2016, 2:55 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Split hand/foot malformation 1 183600
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- Split hand/foot malformation 1, 183600
- Tags
- OMIM
- 601285
- Clinvar variants
- Variants in SEM1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 2
Added New Source, Set Phenotypes
Eleanor Williams (Genomics England Curator)Source Expert Review Red was added to SEM1. Added phenotypes Split hand/foot malformation 1, 183600 for gene: SEM1
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: SEM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to SEM1. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)SEM1 was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)SEM1 was created by Ellen McDonagh