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  2. Early onset or syndromic epilepsy
  3. RTEL1
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Early onset or syndromic epilepsy

Gene: RTEL1

Red List (low evidence)
RTEL1 (regulator of telomere elongation helicase 1)
EnsemblGeneIds (GRCh38): ENSG00000258366
EnsemblGeneIds (GRCh37): ENSG00000258366
OMIM: 608833, Gene2Phenotype
RTEL1 is in 19 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment on publications: PMID: 39156922 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 25 Mar 2025, 11:58 a.m. | Last Modified: 25 Mar 2025, 11:58 a.m.
Panel Version: 7.77
PMID: 39156922 reports two sibling from a consanguineous family who had familial progressive myoclonus epilepsy. Both of the sibling were homozygous for a KCNH8 variant (NM_144633.3:c.298T>C; p.Tyr100His) and a RTEL1 variant (NM_032957.5:c.691G>T; p.Asp231Tyr).
Sources: Literature
Created: 25 Mar 2025, 11:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Familial Progressive Myoclonus Epilepsy

Publications

Created: 25 Mar 2025, 11:54 a.m.

Panel version: 7.76

History Filter Activity

25 Mar 2025, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RTEL1 were set to 39156922

25 Mar 2025, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: RTEL1 was added gene: RTEL1 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 39156922 Phenotypes for gene: RTEL1 were set to Familial Progressive Myoclonus Epilepsy Review for gene: RTEL1 was set to RED