Optic neuropathy

Gene: SNF8

Amber List (moderate evidence)

SNF8 (SNF8, ESCRT-II complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000159210
EnsemblGeneIds (GRCh37): ENSG00000159210
OMIM: 610904, Gene2Phenotype
SNF8 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: There are two unrelated cases reported with optic atrophy and hence this gene should be rated amber with current evidence.
Created: 13 Mar 2024, 6:22 a.m. | Last Modified: 13 Mar 2024, 6:22 a.m.
Panel Version: 4.24
PMID:38423010 reported nine individuals from six families presenting with a spectrum of neurodevelopmental/ neurodegenerative features caused by biallelic variants in SNF8.

The phenotypic spectrum included four individuals with severe developmental and epileptic encephalopathy with leukoencephalopathy and early death in three of those cases. Two individuals died too young to develop epilepsy. A second cohort shows a milder phenotype with intellectual disability, childhood-onset optic atrophy, or ataxia. All mildly affected individuals shared the same hypomorphic variant, c.304G>A (p.Val102Ile) as compound heterozygous. Three of the patients (from two families) with the milder phenotype also have optic atrophy.

Functional studies using fibroblasts derived from patients and zebrafish model showed loss of function as the disease mechanism.

This gene has not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Created: 13 Mar 2024, 6:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

neurodevelopmental disorder, MONDO:0700092; optic atrophy, MONDO:0003608



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Literature
  • neurodevelopmental disorder, MONDO:0700092
  • optic atrophy, MONDO:0003608
Clinvar variants
Variants in SNF8
Panels with this gene

History Filter Activity

13 Mar 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: snf8 has been classified as Amber List (Moderate Evidence).

13 Mar 2024, Gel status: 1

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 Optic neuropathy. Sources: Literature 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 neurodevelopmental disorder, MONDO:0700092; optic atrophy, MONDO:0003608 Review for gene: SNF8 was set to AMBER