This Panel is marked as Internal
Congenital anaemias
Gene: BAAT
BAAT (bile acid-CoA:amino acid N-acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000136881
EnsemblGeneIds (GRCh37): ENSG00000136881
OMIM: 602938, Gene2Phenotype
BAAT is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000136881
EnsemblGeneIds (GRCh37): ENSG00000136881
OMIM: 602938, Gene2Phenotype
BAAT is in 7 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Hypercholanemia, familial, 607748
- Hypercholanemia
- OMIM
- 602938
- Clinvar variants
- Variants in BAAT
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
30 Sep 2015, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BAAT was set to BIALLELIC, autosomal or pseudoautosomal
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)BAAT was added to Congenital anaemiaspanel. Source: Illumina TruGenome Clinical Sequencing Services
30 Sep 2015, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BAAT was set to BIALLELIC, autosomal or pseudoautosomal
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)BAAT was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen
28 Apr 2015, Gel status: 2
Added New Source
GEL ()BAAT was added to Congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services
28 Apr 2015, Gel status: 1
Added New Source
GEL ()BAAT was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen