26 May 2021
Inherited white matter disorders v1.100
NAXE
Arina Puzriakova Classified gene: NAXE as Green List (high evidence)
26 May 2021
Inherited white matter disorders v1.100
NAXE
Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Green. Sufficient number of unrelated cases (>3) with white matter abnormalities to rate as Green on this panel.
26 May 2021
Inherited white matter disorders v1.100
NAXE
Arina Puzriakova Gene: naxe has been classified as Green List (High Evidence).
26 May 2021
Inherited white matter disorders v1.99
NAXE
Arina Puzriakova Publications for gene: NAXE were set to 27616477, 27122014
26 May 2021
Inherited white matter disorders v1.98
NAXE
Arina Puzriakova reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616477, 27122014, 27290639, 30022751, 31758406, 31745726; Phenotypes: Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, OMIM:617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 May 2021
Inherited white matter disorders v1.98
NAXE
Arina Puzriakova Phenotypes for gene: NAXE were changed from Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186 to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186
19 Dec 2018
Inherited white matter disorders v1.37
NAXE
Sarah Leigh Classified gene: NAXE as Red List (low evidence)
19 Dec 2018
Inherited white matter disorders v1.37
NAXE
Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
19 Dec 2018
Inherited white matter disorders v1.37
NAXE
Sarah Leigh Gene: naxe has been classified as Red List (Low Evidence).
24 Jul 2018
Inherited white matter disorders
NAXE
Zornitza Stark Added gene to panel