Brain Calcification
Gene: ATN1EnsemblGeneIds (GRCh38): ENSG00000111676
EnsemblGeneIds (GRCh37): ENSG00000111676
OMIM: 607462, Gene2Phenotype
ATN1 is in 11 panels
1 review
Yetong Chen (University of Melbourne)
PMID 2742549 reports the calcification of the globus pallidus in 4 out of the 10 assessed patients with Haw River Syndrome. Although both Haw River Syndrome and DRPLA are caused by the same expanded CAG repeat in the ATN1 gene, no genetic testing was done on the patients to confirm whether they carried ATN1 variants.
Sources: Expert listCreated: 27 Mar 2023, 8:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dentatorubral-pallidoluysian atrophy; DRPLA
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dentatorubral-pallidoluysian atrophy, MIM# 125370
- Tags
- OMIM
- 607462
- Clinvar variants
- Variants in ATN1
- 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: atn1 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATN1 were changed from Dentatorubral-pallidoluysian atrophy; DRPLA to Dentatorubral-pallidoluysian atrophy, MIM# 125370
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atn1 has been classified as Red List (Low Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag STR tag was added to gene: ATN1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)gene: ATN1 was added gene: ATN1 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATN1 were set to 2742549 Phenotypes for gene: ATN1 were set to Dentatorubral-pallidoluysian atrophy; DRPLA Review for gene: ATN1 was set to RED