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  2. Cytopenias and congenital anaemias
  3. BAAT
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Cytopenias and congenital anaemias

Gene: BAAT

Red List (low evidence)
BAAT (bile acid-CoA:amino acid N-acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000136881
EnsemblGeneIds (GRCh37): ENSG00000136881
OMIM: 602938, Gene2Phenotype
BAAT is in 7 panels

1 review

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Phenotype not appropriate for inclusion
Created: 28 Feb 2017, 1:12 p.m.
Comment on list classification: Phenotype not appropriate for inclusion
Created: 28 Feb 2017, 1:11 p.m.
Phenotype (raised bile acids and fat malabsorption) not appropriate for the phenotype associated with this panel
Created: 28 Feb 2017, 10:43 a.m.

Mode of inheritance
Unknown

Phenotypes
Hypercholanemia, familial 607748

Created: 28 Feb 2017, 10:43 a.m.

Panel version: 0.103

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • 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

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

28 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

BAAT was created by LouiseD

17 Feb 2017, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

BAAT was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services