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Mendeliome

Gene: SLC39A5

Amber List (moderate evidence)

SLC39A5 (solute carrier family 39 member 5)
EnsemblGeneIds (GRCh38): ENSG00000139540
EnsemblGeneIds (GRCh37): ENSG00000139540
OMIM: 608730, Gene2Phenotype
SLC39A5 is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Rare variants identified in myopia cohorts, many lack segregation evidence, some present at low frequency in the population, some supportive functional data.
Created: 1 Apr 2022, 6:40 a.m. | Last Modified: 1 Apr 2022, 6:40 a.m.
Panel Version: 0.12428

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopia 24, autosomal dominant, MIM# 615946

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopia 24, autosomal dominant, MIM# 615946
OMIM
608730
Clinvar variants
Variants in SLC39A5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc39a5 has been classified as Amber List (Moderate Evidence).

1 Apr 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC39A5 were changed from to Myopia 24, autosomal dominant, MIM# 615946

1 Apr 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC39A5 were set to

1 Apr 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC39A5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Apr 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc39a5 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC39A5 was added gene: SLC39A5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC39A5 was set to Unknown