SGCE |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SGCE (HGNC:10808) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- sarcoglycan epsilon
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DYT11
- Alias symbols
- No aliases found
- %HI
- 13.27(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.02(Read more about gnomAD pLI score)
- LOEUF
- 0.54(Read more about gnomAD LOEUF score)
- Cytoband
- 7q21.3
- Genomic Coordinates
-
GRCh37/hg19: chr7:94214292-94285445 NCBI Ensembl UCSC GRCh38/hg38: chr7:94584980-94656133 NCBI Ensembl UCSC - MANE Select Transcript
- NM_003919.3 ENST00000648936.2 (Read more about MANE Select)
- Function
- Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-5418
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency
(3)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
11/11/2021
Haploinsufficiency (HI) Score Details
HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- Dystonia-11, myoclonic Monarch
HI Evidence:
-
PUBMED:
16240355
Asmus et al. (2005) identified 2 different large heterozygous deletions (15 kb deletion resulting in the deletion of exon 5 and termination before the transmembrane domain and 6.8 kb deletion resulting in the deletion of exon 6 and termination before the transmembrane domain) in the SGCE gene in affected members from 2 unrelated families with myoclonic dystonia. The deletion was paternally inherited in all cases with motor symptoms.
-
PUBMED:
11528394
Zimprich et al. (2001) found several LOF variants in SGCE in patients with myoclonus-dystonia syndrome. These variants include a p.R97X nonsense variant in exon 3, a p.R102X variant in two families, a c.565delA frameshift with a premature stop at codon 169, a 97-bp deletion in the SGCE gene affecting intron 3, and a 15 bp deletion of exon 4 in two patients in a family,
-
PUBMED:
12402271
Klein et al. (2002) identified a 5-bp deletion in exon 7 of the SGCE gene (835_839delACAAA) in all 8 affected members. The variant resulted in a frameshift and premature stop codon (Lys278fs295Ter).
-
PUBMED:
20800530
Huang (2010) report three novel deletions of the SGCE gene in three families with myoclonus-dystonia (M-D) syndrome in Taiwan: 1) c.842delA in exon 7 of the three sibs and asymptomatic father in the first family 2) an eight-base heterozygous deletion (c.524_531del) in exon 5 of the mother and a daughter in the second family; 3) a large heterozygous deletion of 2-11 exons was identified by MLPA in the father and a son in the third family.
-
PUBMED:
18205193
Grünewald (2008) tested 35 myoclonus-dystonia patients by MLPA and genomic sequencing, and identified six LOF variants affecting only SGCE (deletion of exon 2, p.C258X, p.R97X; p.R102X, p.R237X, p.R372X).
-
PUBMED:
15728306
Valente et al. (2005) identified the p.R97X variant in 2/ 58 unrelated patients and p. R372X in another 2/58 unrelated patients with a range of myoclonic/dystonic syndromes. Both patients had a phenotype consistent with myoclonus-dystonia syndrome.
HI Evidence Comments:
Loss of function variants, including heterozygous exonic or whole gene deletions and sequence-level variants in SGCE have been associated with myoclonus-dystonia (M-D).
There is strong evidence for maternal imprinting of the SGCE gene. From GeneReviews: "In general, maternally derived SGCE alleles are not expressed and paternally derived SGCE alleles are expressed. Thus, almost all children who inherit an SGCE mutation from their father develop symptoms, whereas close to 95% of children who inherit an SGCE mutation from their mother do not."
Additional information includes:
PMID: 12634861
Grabowski et al. (2003) concluded that there is strong evidence for maternal imprinting of the SGCE gene.
PMID: 16227522
Tezenas du Montcel et al. (2006) identified 13 different variantss in the SGCE gene in 16 of 76 unrelated French Caucasian patients with myoclonus-dystonia or essential myoclonus. In 12 families (75%), at least 1 other family member was affected. Penetrance was complete in paternal transmissions and null in maternal transmissions. None of the patients had severe psychiatric disorders.
PMID:12821748
Foncke et al. (2003) identified a 1-bp insertion in the SGCE gene, 885_886insT, resulting in a frameshift and subsequent protein termination at amino acid 297.
PMID: 17101905
Foncke et al. (2006) identified a heterozygous 2-bp deletion (619_620delAG) in exon 5 of the SGCE gene, resulting in a frameshift and premature termination. The variant was identified in all 19 symptomatic relatives, all 5 'possibly affected' relatives, and in 9 clinically unaffected relatives. All symptomatic individuals inherited the variant from their father, and all asymptomatic individuals inherited it from their mother.
PMID: 2743249
Hjermind et al. (2003) identified a 1-bp deletion (974delC) in exon 7 of the SGCE gene, resulting in a premature stop at codon 325.
Han et al. (2003) reported 2 families with myoclonus-dystonia syndrome caused by the R102X variant.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)