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Genetic Epilepsy

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 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound ID, spasticity, and variable seizures. At least 5 unrelated families reported.
Created: 14 Feb 2021, 7:12 a.m. | Last Modified: 16 May 2024, 2:44 a.m.
Panel Version: 0.2706

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 2D, MIM# 613811

Publications

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Ataxia not a prominent feature of the phenotype. A single report of a 23-year-old woman with slowly progressive cerebellar ataxia and cognitive impairment, with a homozygous missense mutation.
Sources: Expert list
Created: 17 Jan 2020, midnight

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 2D, 613811; cerebellar ataxia and cognitive impairment

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia type 2D, MIM# 613811
OMIM
613009
Clinvar variants
Variants in SEPSECS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sepsecs has been classified as Green List (High Evidence).

16 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SEPSECS were changed from to Pontocerebellar hypoplasia type 2D, MIM# 613811

16 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SEPSECS were set to

16 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SEPSECS was added gene: SEPSECS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SEPSECS was set to Unknown