Early-onset Dementia
Gene: TAF15
TAF15 (TATA-box binding protein associated factor 15)
EnsemblGeneIds (GRCh38): ENSG00000270647
EnsemblGeneIds (GRCh37): ENSG00000172660
OMIM: 601574, Gene2Phenotype
TAF15 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000270647
EnsemblGeneIds (GRCh37): ENSG00000172660
OMIM: 601574, Gene2Phenotype
TAF15 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Two missense variants identified in two unrelated cases with a similar phenotype which included low motor neuron predominant signs, behavioural variant FTD and movement disorders, and in one patient, neuropathology showed a frontotemporal lobar degeneration pattern.
Sources: Expert listCreated: 6 Feb 2020, 6:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Amyotrophic lateral sclerosis; Frontotemporal dementia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Amyotrophic lateral sclerosis
- Frontotemporal dementia
- OMIM
- 601574
- Clinvar variants
- Variants in TAF15
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
6 Feb 2020, Gel status: 2
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: taf15 has been classified as Amber List (Moderate Evidence).
6 Feb 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TAF15 was added gene: TAF15 was added to Early-onset Dementia. Sources: Expert list Mode of inheritance for gene: TAF15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TAF15 were set to 28889094 Phenotypes for gene: TAF15 were set to Amyotrophic lateral sclerosis; Frontotemporal dementia Review for gene: TAF15 was set to AMBER