Paediatric motor neuronopathies
Gene: VAPBEnsemblGeneIds (GRCh38): ENSG00000124164
EnsemblGeneIds (GRCh37): ENSG00000124164
OMIM: 605704, Gene2Phenotype
VAPB is in 4 panels
3 reviews
Pinki Munot (Consultant )
adult onset disease.
no evidence for paediatric onsetCreated: 2 Mar 2017, 7:24 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arianna Tucci (Genomics England Curator)
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
Alice Gardham (Genomics England)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980
- Amyotrophic lateral sclerosis 8, OMIM:608627
- OMIM
- 605704
- Clinvar variants
- Variants in VAPB
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)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
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Alice Gardham (Genomics England)Publications for VAPB were set to 15372378
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for VAPB were set to Spinal muscular atrophy, late-onset, Finkel type 182980 ; Amyotrophic lateral sclerosis 8 608627
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Antonio Rueda (GEL)VAPB was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Antonio Rueda (GEL)VAPB was added to Paediatric motor neuronopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services