Motor Neurone Disease
Gene: UBQLN2
Established gene causative of familial amyotrophic lateral sclerosis (ALS)
Variable age of onset and is the only known gene to cause X-Linked ALS (at this present time)
PMID: 21857683
Individuals from 3 unrelated families with phenotypic features of ALS and mutations in UBQLN2Created: 18 May 2023, 5:05 a.m. | Last Modified: 18 May 2023, 5:05 a.m.
Panel Version: 0.138
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Amyotrophic lateral sclerosis type 15 (MONDO:0010459; MIM#300857)
Publications
Mode of inheritance for gene: UBQLN2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of inheritance for gene: UBQLN2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Gene: ubqln2 has been classified as Green List (High Evidence).
Phenotypes for gene: UBQLN2 were changed from to Amyotrophic lateral sclerosis type 15 (MONDO:0010459; MIM#300857)
Publications for gene: UBQLN2 were set to
Mode of inheritance for gene: UBQLN2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
gene: UBQLN2 was added gene: UBQLN2 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: UBQLN2 was set to Unknown