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  3. SEPHS1
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DDG2P

Gene: SEPHS1

Green List (high evidence)
SEPHS1 (selenophosphate synthetase 1)
EnsemblGeneIds (GRCh38): ENSG00000086475
EnsemblGeneIds (GRCh37): ENSG00000086475
OMIM: 600902, Gene2Phenotype
SEPHS1 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SEPHS1-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined non-loss-of-function (PMID:38531365). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03730.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MONDO:0700092; SEPHS1-related neurodevelopmental disorder

Publications

Mode of pathogenicity
Other

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MONDO:0700092
  • SEPHS1-related neurodevelopmental disorder
OMIM
600902
Clinvar variants
Variants in SEPHS1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SEPHS1 was added gene: SEPHS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SEPHS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEPHS1 were set to 38531365 Phenotypes for gene: SEPHS1 were set to MONDO:0700092; SEPHS1-related neurodevelopmental disorder Mode of pathogenicity for gene: SEPHS1 was set to Other