Skeletal dysplasia
Gene: SEM1

SEM1 (SEM1, 26S proteasome complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000127922
EnsemblGeneIds (GRCh37): ENSG00000127922
OMIM: 601285, Gene2Phenotype
SEM1 is in 2 panels

3 reviews

Louise Daugherty (Genomics England Curator)

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.

Created: 24 Mar 2017, 12:55 p.m.

Panel version: 1.5

Sarah Leigh (Genomics England Curator)

Comment on list classification: This is a locus not a gene
Created: 29 Jul 2016, 2:55 p.m.

Created: 29 Jul 2016, 2:55 p.m.

Panel version: 0.1146

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

Created: 17 Jun 2016, 8:08 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red

Phenotypes

SHFM1

OMIM

601285

Clinvar variants

Variants in SEM1

Penetrance

Complete

Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 1

Changed Gene Name

GEL ()

SHFM1 was changed to SEM1

5 Nov 2017, Gel status: 1

Removed Tag

GEL ()

new-gene-name was removed from SHFM1. Panel: Unexplained skeletal dysplasia

24 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 Aug 2016, Gel status: 0