Mitochondrial disorders

Gene: SLC39A8

I don't know

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

• 29453449
• 27995398

Red List (low evidence)

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

• 29903433