Paediatric motor neuronopathies
Gene: VAPB
adult onset disease.
no evidence for paediatric onsetCreated: 2 Mar 2017, 7:24 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment when marking as ready: Marked as red as associated with adult onsetCreated: 7 Mar 2017, 12:40 p.m.
Monoallelic mutations cause familial spinal muscular atrophy typically with adult onsetCreated: 31 Jan 2017, 3:44 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinal muscular atrophy, late-onset, Finkel type, 182980
Both conditions usually late onset. SMA phenotype only reported in three familiesCreated: 26 Jan 2017, 11:57 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinal muscular atrophy, late-onset, Finkel type 182980 ; Amyotrophic lateral sclerosis 8 608627
Phenotypes for gene: VAPB were changed from Spinal muscular atrophy, late-onset, Finkel type 182980; Amyotrophic lateral sclerosis 8 608627 to Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980; Amyotrophic lateral sclerosis 8, OMIM:608627
Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
This gene has been classified as Amber List (Moderate Evidence).
Publications for VAPB were set to 15372378
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for VAPB were set to Spinal muscular atrophy, late-onset, Finkel type 182980 ; Amyotrophic lateral sclerosis 8 608627
This gene has been classified as Red List (Low Evidence).
VAPB was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen
VAPB was added to Paediatric motor neuronopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services