Genomics England
GMS Panels
Panels
Genes and Entities

SNF8

SNF8, ESCRT-II complex subunit
OMIM: 610904
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SNF8-related disease spectrum (severe developmental and epileptic encephalopathy to syndromic optic atrophy)
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder plus optic atrophy, OMIM:620784, Developmental and epileptic encephalopathy 115, OMIM:620783
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071