1. Panels
  2. Cerebellar hypoplasia
  3. SEPSECS
STRs in panel
Prev Next
Regions in panel
Prev Next

Cerebellar hypoplasia

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

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Offered on UKGTN as diagnostic test. Reasonable amount of literature
Created: 3 Nov 2016, 9:34 a.m.
Created: 3 Nov 2016, 9:34 a.m.

Panel version: 0.44

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added by a reviewer, and found in 3/4 sources.
Created: 19 May 2016, 8:52 a.m.
Created: 19 May 2016, 8:52 a.m.

Panel version: 0.41

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Pontocerebellar Hypoplasia type 2D
  • Pontocerebellar Hypoplasia
  • Pontocerebellar hypoplasia type 2D, 613811
OMIM
613009
Clinvar variants
Variants in SEPSECS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

3 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

11 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SEPSECS was added to Cerebellar hypoplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services

11 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SEPSECS was added to Cerebellar hypoplasiapanel. Source: Radboud University Medical Center, Nijmegen

11 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SEPSECS was added to Cerebellar hypoplasiapanel. Source: UKGTN

20 Jan 2016, Gel status: 0

Added New Source

Helen Savage (Congenica Ltd)

SEPSECS was added to Cerebellar hypoplasiapanel. Sources: Literature,Other

20 Jan 2016, Gel status: 0

Created

Helen Savage (Congenica Ltd)

SEPSECS was created by helen.savage