Hereditary ataxia with onset in adulthood
Gene: SLC39A8EnsemblGeneIds (GRCh38): ENSG00000138821
EnsemblGeneIds (GRCh37): ENSG00000138821
OMIM: 608732, Gene2Phenotype
SLC39A8 is in 10 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Sufficient numbers of families (including multiple missense variants with functional evidence showing loss of function) reported in the literatureCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation type IIN, 616721
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Congenital disorder of glycosylation type IIN, 616721
- OMIM
- 608732
- Clinvar variants
- Variants in SLC39A8
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Fetal anomalies
- DDG2P
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Congenital disorders of glycosylation
- Hereditary ataxia with onset in adulthood
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: SLC39A8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: slc39a8 has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Congenital disorder of glycosylation type IIN, 616721 for gene: SLC39A8
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SLC39A8.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: SLC39A8 was added gene: SLC39A8 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC39A8 was set to