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Intellectual disability syndromic and non-syndromic

Gene: ACAT1

Amber List (moderate evidence)

ACAT1 (acetyl-CoA acetyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000075239
EnsemblGeneIds (GRCh37): ENSG00000075239
OMIM: 607809, Gene2Phenotype
ACAT1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Primarily manifests as metabolic decompensation, DD/ID reported in a few individuals, mostly normal cognition.
Created: 27 Jan 2020, 4:54 a.m. | Last Modified: 27 Jan 2020, 4:54 a.m.
Panel Version: 0.1708

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alpha-methylacetoacetic aciduria, MIM# 203750

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Alpha-methylacetoacetic aciduria, MIM# 203750
OMIM
607809
Clinvar variants
Variants in ACAT1
Penetrance
None
Panels with this gene

History Filter Activity

27 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acat1 has been classified as Amber List (Moderate Evidence).

27 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACAT1 were changed from to Alpha-methylacetoacetic aciduria, MIM# 203750

27 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ACAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

27 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acat1 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACAT1 was added gene: ACAT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ACAT1 was set to Unknown