Genetic Epilepsy
Gene: SEPSECS

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

Created: 14 Feb 2021, 7:12 a.m.
Last Modified: 16 May 2024, 2:44 a.m.
Panel version: Imported from Mendeliome panel version 0.6377

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

29464431

Created: 17 Jan 2020, midnight

Panel version: Imported from Mendeliome panel version Imported from Ataxia - adult onset panel version 0.11

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