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DDG2P

Gene: ACSL4

Amber List (moderate evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable (for all listed disorders).
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 63 300387
  • ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS 300194
OMIM
300157
Clinvar variants
Variants in ACSL4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes MENTAL RETARDATION X-LINKED TYPE 63 300387 for gene: ACSL4 Publications for gene ACSL4 were changed from to 12525535; 11889465

19 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ACSL4 was added gene: ACSL4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ACSL4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ACSL4 were set to ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS 300194