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Intellectual disability syndromic and non-syndromic

Gene: ACSL4

Green List (high evidence)

ACSL4 (acyl-CoA synthetase long chain family member 4)
EnsemblGeneIds (GRCh38): ENSG00000068366
EnsemblGeneIds (GRCh37): ENSG00000068366
OMIM: 300157, Gene2Phenotype
ACSL4 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: At least three unrelated individuals reported.
Created: 31 Jan 2020, 11:18 a.m. | Last Modified: 31 Jan 2020, 11:18 a.m.
Panel Version: 0.1833

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Just a few reports, a couple truncating reported path (Decipher and ClinVar), and one missense shown to cause reduced activity (OMIM; PMID:12525535). Two studies showed female carriers had 100% skewed X-inactivation (OMIM).
Created: 31 Jan 2020, 3:51 a.m. | Last Modified: 31 Jan 2020, 3:51 a.m.
Panel Version: 0.1805

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
1. Mental retardation, X-linked 63 300387 XLD

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, X-linked 63, MIM# 300387 XLD
OMIM
300157
Clinvar variants
Variants in ACSL4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acsl4 has been classified as Green List (High Evidence).

31 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACSL4 were changed from to Mental retardation, X-linked 63, MIM# 300387 XLD

31 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACSL4 were set to

31 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ACSL4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACSL4 was added gene: ACSL4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ACSL4 was set to Unknown