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| BabyScreen+ newborn screening v1.114 | NAXE |
Tommy Li Added phenotypes Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186 for gene: NAXE Publications for gene NAXE were updated from 27122014; 27616477; 31758406 to 27616477; 27122014; 31758406 |
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| BabyScreen+ newborn screening v0.2037 | NAXE | Zornitza Stark Marked gene: NAXE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2037 | NAXE | Zornitza Stark Gene: naxe has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2037 | NAXE |
Zornitza Stark gene: NAXE was added gene: NAXE was added to Baby Screen+ newborn screening. Sources: Expert list treatable, metabolic tags were added to gene: NAXE. Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAXE were set to 27122014; 27616477; 31758406 Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186 Review for gene: NAXE was set to RED Added comment: Early-onset progressive encephalopathy with brain oedema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported. Treatment: niacin However, single case reported. Treatment not established. Sources: Expert list |
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