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Regression

Gene: ACER3

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated families reported, including clinical presentations with regression following a period of normal development.
Sources: Expert Review
Created: 28 Mar 2022, 2:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

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

History Filter Activity

28 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acer3 has been classified as Green List (High Evidence).

28 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acer3 has been classified as Green List (High Evidence).

28 Mar 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACER3 was added gene: ACER3 was added to Regression. Sources: Expert Review Mode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACER3 were set to 32816236; 26792856; 34281620 Phenotypes for gene: ACER3 were set to Leukodystrophy, progressive, early childhood-onset, MIM:617762 Review for gene: ACER3 was set to GREEN