DDG2P
Gene: SNF8

SNF8 (SNF8, ESCRT-II complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000159210
EnsemblGeneIds (GRCh37): ENSG00000159210
OMIM: 610904, Gene2Phenotype
SNF8 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease SNF8-related disease spectrum (severe developmental and epileptic encephalopathy to syndromic optic atrophy) is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 38423010).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.

Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SNF8-related disease spectrum (severe developmental and epileptic encephalopathy to syndromic optic atrophy)

Publications

38423010

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 5.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

SNF8-related disease spectrum (severe developmental and epileptic encephalopathy to syndromic optic atrophy)

OMIM

610904

Clinvar variants

Variants in SNF8

Penetrance

None

Publications

38423010

Panels with this gene

History Filter Activity

21 Feb 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SNF8 was added gene: SNF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SNF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNF8 were set to 38423010 Phenotypes for gene: SNF8 were set to SNF8-related disease spectrum (severe developmental and epileptic encephalopathy to syndromic optic atrophy)

DDG2P Gene: SNF8