Leukodystrophy - paediatric
Gene: ACER3

ACER3 (alkaline ceramidase 3)
EnsemblGeneIds (GRCh38): ENSG00000078124
EnsemblGeneIds (GRCh37): ENSG00000078124
OMIM: 617036, Gene2Phenotype
ACER3 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England)

Green List (high evidence)

Additional publication (Dehvani et al., 2021; PMID: 34281620) detailing three further unrelated cases, each with novel homozygous variants in the ACER3 gene. All individuals displayed features of progressive leukoencephalopathy, developmental delay, hypotonia, appendicular spasticity, and dystonia. Early development is apparently normal followed by symptoms of stagnation and neurologic regression (onset within first year of life).
Created: 25 Mar 2022, 12:21 p.m. | Last Modified: 25 Mar 2022, 12:21 p.m.

Panel Version: 0.246

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, progressive, early childhood-onset, OMIM:617762

Publications

34281620

Created: 25 Mar 2022, 12:21 p.m.
Last Modified: 25 Mar 2022, 12:21 p.m.
Panel version: 0.246

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported with bi-allelic variants, and paediatric onset progressive leukodystorphy. Functional data demonstrating ACER3 deficiency.
Sources: Literature
Created: 6 Oct 2020, 10:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy

Publications

Created: 6 Oct 2020, 10:11 a.m.

Panel version: 0.206

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

Phenotypes

Leukodystrophy, progressive, early childhood-onset, OMIM:617762

OMIM

617036

Clinvar variants

Variants in ACER3

Penetrance

None

Publications

Panels with this gene