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  2. Ataxia and cerebellar anomalies - narrow panel
  3. SEPSECS
Genes in panel
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Ataxia and cerebellar anomalies - narrow panel

Gene: SEPSECS

Green List (high evidence)
SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase)
EnsemblGeneIds (GRCh38): ENSG00000109618
EnsemblGeneIds (GRCh37): ENSG00000109618
OMIM: 613009, Gene2Phenotype
SEPSECS is in 11 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar Hypoplasia
  • Pontocerebellar hypoplasia type 2D (613811)
  • Pontocerebellar hypoplasia type 2D, 613811
  • Pontocerebellar Hypoplasia type 2D
OMIM
613009
Clinvar variants
Variants in SEPSECS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Pontocerebellar hypoplasia type 2D (613811) for gene: SEPSECS

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SEPSECS was added gene: SEPSECS was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEPSECS were set to PMID: 12920088; PMID: 20920667 Phenotypes for gene: SEPSECS were set to Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia type 2D, 613811; Pontocerebellar Hypoplasia type 2D