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Intellectual disability

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

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoted from red to green based on evidence provided by previous review.
Created: 14 Jun 2019, 12:07 p.m.
Submitted on behalf of Professor Sian Ellard (South West Genomic Laboratory Hub), who has a patient with compound heterozygous SEPSECS variants identified through a gene-agnostic trio analysis of the 100,000 Genome Project data.

SEPSECS is associated with a phenotype in OMIM and Gene2Phenotype and it is a green gene in the Genetic epilepsy syndromes panel (v1.56). There are >3 unrelated cases (PMID: 26805434;29464431;28133863;26115735;26888482) of different missense and frameshift variants in this gene associated with patients who are diagnosed with Pontocerebellar hypoplasia type 2D. All patients have profound intellectual disability and some have developmental delay. PMID: 27576344 is a study that looked at the structural porperties of some of the disease-associated variants and found showed that the variants cause reduced stability and increased propensity towards misfolding of the protein.
Sources: Expert Review
Created: 14 Jun 2019, noon

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 2D, 613811

Publications

History Filter Activity

14 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

14 Jun 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: SEPSECS was added gene: SEPSECS was added to Intellectual disability. Sources: Expert Review Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEPSECS were set to 26805434; 29464431; 28133863; 26115735; 27576344; 26888482 Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D, 613811 Review for gene: SEPSECS was set to GREEN