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Limb disorders

Gene: SEM1

Red List (low evidence)

SEM1 (SEM1, 26S proteasome complex subunit)
EnsemblGeneIds (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)

Red List (low evidence)

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 review
Created: 5 Oct 2018, 4:10 p.m.
added tag polygenic
Created: 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 product
Created: 24 Mar 2017, 1:04 p.m.
New approved gene symbol is SEM1
Created: 24 Mar 2017, 12:55 p.m.
added new-gene-name tag
Created: 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 gene
Created: 29 Jul 2016, 2:55 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 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
polygenic
OMIM
601285
Clinvar variants
Variants in SEM1
Penetrance
None
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

7 Nov 2018, Gel status: 1

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

5 Oct 2018, Gel status: 1

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

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to SEM1. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SEM1 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SEM1 was created by Ellen McDonagh