Motor Neurone Disease
Gene: TAF15EnsemblGeneIds (GRCh38): ENSG00000270647
EnsemblGeneIds (GRCh37): ENSG00000172660
OMIM: 601574, Gene2Phenotype
TAF15 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
No family studies, but >3 cases and functional studies.
Sources: Expert listCreated: 31 Mar 2020, 11:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyotrophic lateral sclerosis
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Amyotrophic lateral sclerosis
- OMIM
- 601574
- Clinvar variants
- Variants in TAF15
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: taf15 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: taf15 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: TAF15 was added gene: TAF15 was added to Motor Neuron Disease. Sources: Expert list Mode of inheritance for gene: TAF15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAF15 were set to 21438137; 22065782; 27810362; 28889094 Phenotypes for gene: TAF15 were set to Amyotrophic lateral sclerosis Review for gene: TAF15 was set to AMBER