1. Panels
  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. SLC39A12
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: SLC39A12

Red List (low evidence)
SLC39A12 (solute carrier family 39 member 12)
EnsemblGeneIds (GRCh38): ENSG00000148482
EnsemblGeneIds (GRCh37): ENSG00000148482
OMIM: 608734, Gene2Phenotype
SLC39A12 is in 2 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

WES (with targeted analysis of SLC genes) in 913 cases from 785 families with inherited retinal dystrophy. They identified 1 homozygous variant in SLC39A12 in 1 individual with adult-onset mild widespread retinal degeneration with marked macular involvement. No functional data. RNA seq analysis revealed retinal expression in human samples. Immunohistochemistry of human and mouse retina revealed comprehensive expression in various retinal cells including retinal pigment epithelium.
Sources: Literature
Created: 29 Apr 2024, 10:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa, MONDO:0019200

Publications

Created: 29 Apr 2024, 10:07 p.m.

Panel version: 0.139

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, SLC39A12-related
OMIM
608734
Clinvar variants
Variants in SLC39A12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc39a12 has been classified as Red List (Low Evidence).

30 Apr 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC39A12 were changed from Retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa, MONDO:0019200, SLC39A12-related

29 Apr 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: SLC39A12 was added gene: SLC39A12 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature Mode of inheritance for gene: SLC39A12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A12 were set to PMID: 35486108 Phenotypes for gene: SLC39A12 were set to Retinitis pigmentosa, MONDO:0019200 Review for gene: SLC39A12 was set to RED