Congenital Diarrhoea
Gene: ACSL5

ACSL5 (acyl-CoA synthetase long chain family member 5)
EnsemblGeneIds (GRCh38): ENSG00000197142
EnsemblGeneIds (GRCh37): ENSG00000197142
OMIM: 605677, Gene2Phenotype
ACSL5 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

6 individuals of a large consanguineous family presented in the neonatal period with recurrent vomiting and diarrhea, leading to severe FTT. Autozygosity mapping and WES identified homozygous variant (c.1358C>A:p.(Thr453Lys) in ACSL5. Segregated with affected individuals.

Functional in vitro analysis of the ACSL5 variant by immunofluorescence, western blotting and enzyme assay suggested that Thr453Lys is a loss‐of‐function mutation without any remaining activity.

Affected individuals were treated with total parenteral nutrition or medium‐chain triglyceride‐based formula restricted in long‐chain triglycerides. They responded well and follow up suggests that treatment is only required during early life.
Sources: Literature
Created: 1 May 2023, 3:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diarrhoea 13, MIM# 620357

Publications

33191500

Created: 1 May 2023, 3:13 a.m.

Panel version: 1.13

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Diarrhoea 13, MIM# 620357

OMIM

605677

Clinvar variants

Variants in ACSL5

Penetrance

None

Publications

33191500

Panels with this gene

History Filter Activity

1 May 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acsl5 has been classified as Red List (Low Evidence).

1 May 2023, Gel status: 1

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