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  3. SEPSECS
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Ataxia - adult onset

Gene: SEPSECS

Red List (low 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 mental retardation, spasticity, and variable seizures. At least 5 unrelated families reported.
Created: 14 Feb 2021, 7:12 a.m. | Last Modified: 14 Feb 2021, 7:12 a.m.
Panel Version: 0.6377

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: 14 Feb 2021, 7:12 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

Created: 17 Jan 2020, midnight

Panel version: 0.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia type 2D, 613811
  • cerebellar ataxia and cognitive impairment
OMIM
613009
Clinvar variants
Variants in SEPSECS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sepsecs has been classified as Red List (Low Evidence).

17 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SEPSECS was added gene: SEPSECS was added to Ataxia - adult onset_RMH. Sources: Expert list Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEPSECS were set to 29464431 Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D, 613811; cerebellar ataxia and cognitive impairment Review for gene: SEPSECS was set to RED