SNF8

SNF8, ESCRT-II complex subunit
OMIM: 610904, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green SNF8 in Mendeliome Version 1.2302	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 115, MIM#620783 Neurodevelopmental disorder plus optic atrophy, MIM# 620784
Amber SNF8 in Optic Atrophy Level 2: Ophthalmological disorders Version 1.45 Component of the following Super Panels: Retinal Disorders Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder plus optic atrophy, MIM# 620784
Green SNF8 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 115, MIM#620783
Green SNF8 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 115, MIM#620783
Green SNF8 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 115, MIM#620783 Neurodevelopmental disorder plus optic atrophy, MIM# 620784