Leukodystrophy - adult onset
Gene: AARS
Limited evidence to link with leukodystrophy. Single multigenerational family segregating a heterozygous missense variant.
Sources: Expert listCreated: 21 Jun 2020, 6:07 a.m. | Last Modified: 10 Jan 2022, 2:46 a.m.
Panel Version: 0.94
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661
Publications
Phenotypes for gene: AARS were changed from Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287 to Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661
Mode of inheritance for gene: AARS was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: aars has been classified as Amber List (Moderate Evidence).
Gene: aars has been classified as Amber List (Moderate Evidence).
Gene: aars has been classified as Amber List (Moderate Evidence).
Gene: aars has been classified as Amber List (Moderate Evidence).
gene: AARS was added gene: AARS was added to Leukodystrophy - adult onset. Sources: Expert list Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS were set to 31775912 Phenotypes for gene: AARS were set to Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287 Review for gene: AARS was set to AMBER