Regression
Gene: ACER3EnsemblGeneIds (GRCh38): ENSG00000078124
EnsemblGeneIds (GRCh37): ENSG00000078124
OMIM: 617036, Gene2Phenotype
ACER3 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Five unrelated families reported, including clinical presentations with regression following a period of normal development.
Sources: Expert ReviewCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: acer3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: acer3 has been classified as Green List (High Evidence).
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