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Intellectual disability

Gene: ACER3

Amber List (moderate evidence)

ACER3 (alkaline ceramidase 3)
EnsemblGeneIds (GRCh38): ENSG00000078124
EnsemblGeneIds (GRCh37): ENSG00000078124
OMIM: 617036, Gene2Phenotype
ACER3 is in 4 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence to rate this gene Green on this panel at the next GMS review - now at least 5 unrelated families reported with homozygous variants (PMIDs: 26792856; 32816236; 34281620). Phenotypes that are consistent amongst all affected individuals comprise of developmental regression (motor and cognitive), dystonia, spasticity, and leukodystrophy.
Created: 25 Mar 2022, 12:18 p.m. | Last Modified: 25 Mar 2022, 12:18 p.m.
Panel Version: 1.227
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, 12:11 p.m. | Last Modified: 25 Mar 2022, 12:11 p.m.
Panel Version: 1.225

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. Currently, there is not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Created: 13 May 2021, 12:16 p.m. | Last Modified: 13 May 2021, 12:16 p.m.
Panel Version: 1.94

Zornitza Stark (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: 2 Nov 2020, 9:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Leukodystrophy, progressive, early childhood-onset, OMIM:617762
Tags
Q1_22_rating
OMIM
617036
Clinvar variants
Variants in ACER3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Mar 2022, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: ACER3 was added gene: ACER3 was added to Intellectual disability. Sources: Expert Review Amber,Literature Q1_22_rating tags were added to gene: ACER3. Mode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACER3 were set to 26792856; 32816236; 34281620 Phenotypes for gene: ACER3 were set to Leukodystrophy, progressive, early childhood-onset, OMIM:617762