Structural basal ganglia disorders

Gene: SLC39A14

Green List (high evidence)

SLC39A14 (solute carrier family 39 member 14)
EnsemblGeneIds (GRCh38): ENSG00000104635
EnsemblGeneIds (GRCh37): ENSG00000104635
OMIM: 608736, Gene2Phenotype
SLC39A14 is in 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on "Treatment" tag: Chelation with disodium calcium edetate lowers blood manganese levels in patients and can lead to striking clinical improvement (PMID: 27231142)
Created: 16 Mar 2017, 10:55 a.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 5 variants reported in 5 unrelated cases
Created: 14 Mar 2017, 4:19 p.m.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

14 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Mar 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SLC39A14 were set to 27231142

14 Mar 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SLC39A14 were set to Hypermanganesemia with dystonia 2 617013

14 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

SLC39A14 was added to Structural basal ganglia disorderspanel. Sources: Literature

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

SLC39A14 was created by Manju