1. Panels
  2. Ketotic hypoglycaemia
  3. BAAT
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Ketotic hypoglycaemia

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

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Added by reviewer and rated red.
Created: 6 Apr 2016, 10:28 a.m.
Created: 6 Apr 2016, 10:28 a.m.

Panel version: 0.77

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • choleostatic liver disease
OMIM
602938
Clinvar variants
Variants in BAAT
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

6 Apr 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

6 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

19 Oct 2015, Gel status: 0

Added New Source

Alexander Broomfield (Central Manchester Foundation Trust)

BAAT was added to Ketotic hypoglycaemiapanel. Sources: Literature