Hereditary alpha tryptasaemia
Gene: TPSAB1EnsemblGeneIds (GRCh38): ENSG00000172236
EnsemblGeneIds (GRCh37): ENSG00000172236
OMIM: 191080, Gene2Phenotype
TPSAB1 is in 2 panels
1 review
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval. Approved in the 1st cycleCreated: 31 Jan 2023, 2:33 p.m. | Last Modified: 31 Jan 2023, 2:33 p.m.
Panel Version: 0.3
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Tags
- OMIM
- 191080
- Clinvar variants
- Variants in TPSAB1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag gene-checked tag was added to gene: TPSAB1.
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: TPSAB1 was added gene: TPSAB1 was added to Hereditary alpha tryptasaemia. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TPSAB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted