1. Panels
  2. Ketotic hypoglycaemia
  3. ACAT1
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Ketotic hypoglycaemia

Gene: ACAT1

Green List (high evidence)
ACAT1 (acetyl-CoA acetyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000075239
EnsemblGeneIds (GRCh37): ENSG00000075239
OMIM: 607809, Gene2Phenotype
ACAT1 is in 9 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Alexander Broomfield (Central Manchester Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fasting intolerance with acidosis, ? residual neurological problems
OMIM
607809
Clinvar variants
Variants in ACAT1
Penetrance
Complete
Publications
  • Daum RS, Scriver CR 1973 and Fukao T , Yamaguchi S, Kano 1990
Panels with this gene

History Filter Activity

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Apr 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ACAT1 was changed to BIALLELIC, autosomal or pseudoautosomal

6 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Oct 2015, Gel status: 0

Added New Source

Alexander Broomfield (Central Manchester Foundation Trust)

ACAT1 was added to Ketotic hypoglycaemiapanel. Sources: Literature