Early-onset Dementia
Gene: HNRNPA2B1EnsemblGeneIds (GRCh38): ENSG00000122566
EnsemblGeneIds (GRCh37): ENSG00000122566
OMIM: 600124, Gene2Phenotype
HNRNPA2B1 is in 5 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
One family reported that segregates cognitive impairment as part of the phenotype, and extensive functional analysis of protein, including a drosophila model.
Sources: LiteratureCreated: 20 Aug 2020, midnight
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422
- OMIM
- 600124
- Clinvar variants
- Variants in HNRNPA2B1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HNRNPA2B1 was added gene: HNRNPA2B1 was added to Early-onset Dementia. Sources: Literature Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPA2B1 were set to 23455423; 30279180; 29358076; 26744327; 23635965 Phenotypes for gene: HNRNPA2B1 were set to Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422 Review for gene: HNRNPA2B1 was set to AMBER