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  3. SLC39A8
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Mitochondrial disease

Gene: SLC39A8

Amber List (moderate evidence)
SLC39A8 (solute carrier family 39 member 8)
EnsemblGeneIds (GRCh38): ENSG00000138821
EnsemblGeneIds (GRCh37): ENSG00000138821
OMIM: 608732, Gene2Phenotype
SLC39A8 is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

6 individuals from Hutterite descent and two other unrelated families reported.
Created: 1 Apr 2022, 5:07 a.m. | Last Modified: 1 Apr 2022, 5:07 a.m.
Panel Version: 0.12420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIn , MIM#16721

Publications

Created: 1 Apr 2022, 5:07 a.m.
Last Modified: 1 Apr 2022, 5:07 a.m.
Panel version: Imported from Mendeliome panel version 0.12420

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Comment on list classification: There's currently one family with a Leigh-like mitochondrial phenotype and in vitro functional assay data.
Created: 20 Mar 2020, 5:47 a.m. | Last Modified: 20 Mar 2020, 5:47 a.m.
Panel Version: 0.228
Functional analyses of loss of function variants that have been identified in 3 CDG type II-associated cases and a Leigh-like syndrome mitochondrial disorder case resulted in mitochondrial dysfunction and oxidative stress.
Sources: NHS GMS
Created: 20 Mar 2020, 5:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIn MIM#616721

Publications

Created: 20 Mar 2020, 5:24 a.m.

Panel version: 0.226

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIn MIM#616721
OMIM
608732
Clinvar variants
Variants in SLC39A8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc39a8 has been classified as Amber List (Moderate Evidence).

20 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc39a8 has been classified as Amber List (Moderate Evidence).

20 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc39a8 has been classified as Amber List (Moderate Evidence).

20 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC39A8 was added gene: SLC39A8 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A8 were set to 29453449; 27995398 Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn MIM#616721 Review for gene: SLC39A8 was set to AMBER