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Prepair 1000+

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

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

PCH2D is characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound intellectual disability, spasticity, and variable seizures.

HGNC approved symbol/name: SEPSECS
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 3 Mar 2025, 5:48 a.m. | Last Modified: 3 Mar 2025, 5:48 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 2D, MIM# 613811

Publications

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Pontocerebellar hypoplasia type 2D, 613811 (3) for gene: SEPSECS

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SEPSECS was added gene: SEPSECS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D, 613811 (3)