Optic Atrophy
Gene: SNF8EnsemblGeneIds (GRCh38): ENSG00000159210
EnsemblGeneIds (GRCh37): ENSG00000159210
OMIM: 610904, Gene2Phenotype
SNF8 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder plus optic atrophy, MIM# 620784
Chern Lim (Victorian Clinical Genetics Services)
PMID: 38423010
- Nine individuals from six families presenting with a spectrum of neurodevelopmental/neurodegenerative features caused by bi-allelic variants in SNF8. In total, three putative LoF variants and four missense variants were identified.
- The phenotypic spectrum included four individuals with severe developmental and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death. 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 LoF is the disease mech.
Sources: LiteratureCreated: 7 Mar 2024, 12:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder (MONDO:0700092), SNF8-related
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Neurodevelopmental disorder plus optic atrophy, MIM# 620784
- OMIM
- 610904
- Clinvar variants
- Variants in SNF8
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SNF8 were changed from Developmental and epileptic encephalopathy 115, MIM#620783 to Neurodevelopmental disorder plus optic atrophy, MIM# 620784
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SNF8 were changed from Neurodevelopmental disorder (MONDO:0700092), SNF8-related to Developmental and epileptic encephalopathy 115, MIM#620783
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: snf8 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: snf8 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chern Lim (Victorian Clinical Genetics Services)gene: SNF8 was added gene: SNF8 was added to Optic Atrophy. 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), SNF8-related Review for gene: SNF8 was set to AMBER gene: SNF8 was marked as current diagnostic