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  3. BAAT
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Non-Fanconi anaemia

Gene: BAAT

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

2 reviews

Mark Greenslade (Bristol Genetics Laboratory)

Red List (low evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Helen Savage (Congenica Ltd)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Familial hypercholanemia

Publications

Created: 26 Jan 2016, 2:54 p.m.

Panel version: 0.228

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 Non-Fanconi anaemiapanel. 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 Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

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 Non-Fanconi anaemiapanel. 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 Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BAAT was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BAAT was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BAAT was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BAAT was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BAAT was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

BAAT was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BAAT was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services