Mitochondrial disorders
Gene: SLC39A8
Of the reported cases, there is only one family with a Leigh-like mitochondrial phenotype and in vitro functional assay data.Created: 23 Mar 2020, 3:36 a.m. | Last Modified: 23 Mar 2020, 3:36 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIn, MIM#616721
Publications
Associated with Congenital disorder of glycosylation, type IIn, OMIM:616721 and as definitive gene in Gen2Phen for Intellectual Disability with Cerebellar Atrophy. However, as stated by Zornitza Stark (Australian Genomics) there is insufficient evidence for mitochondrial phenotype associated with this gene.Created: 5 Aug 2019, 10:38 a.m. | Last Modified: 21 Feb 2023, 1:36 p.m.
Panel Version: 3.10
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIn 616721
Publications
Publications for gene: SLC39A8 were set to 29903433
Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn 616721 to Congenital disorder of glycosylation, type IIn, OMIM:616721; SLC39A8-CDG, MONDO:0014746
Mode of inheritance for gene: SLC39A8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A8 were changed from to Congenital disorder of glycosylation, type IIn 616721
Publications for gene: SLC39A8 were set to
gene: SLC39A8 was added gene: SLC39A8 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: SLC39A8 was set to