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  3. SLC39A7
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Epidermolysis bullosa

Gene: SLC39A7

Red List (low evidence)
SLC39A7 (solute carrier family 39 member 7)
EnsemblGeneIds (GRCh38): ENSG00000112473
EnsemblGeneIds (GRCh37): ENSG00000112473
OMIM: 601416, Gene2Phenotype
SLC39A7 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Phenotypes
Agammaglobulinaemia 9, autosomal recessive, MIM# 619693; Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia

Created: 13 Jan 2022, 6:26 a.m.
Last Modified: 13 Jan 2022, 6:26 a.m.
Panel version: 1.3

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

5 families with biallelic variants described in 1 publication. A mouse model recapitulated the phenotype.

Phenoypes are mostly immunological but the two most severely affected individuals (siblings) additionally showed severe blistering dermatosis, failure to thrive and thrombocytopenia. Haematopoietic stem cell transplantation resulted in cure of immunologic abnormalities and amelioration of skin disease. Another patient had seborrheic dermatitis.

Added to this list but rated red as only the one family out of five showed the relevant phenotype.
Sources: Literature
Created: 10 Aug 2020, 1:14 a.m. | Last Modified: 10 Aug 2020, 1:17 a.m.
Panel Version: 0.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Absent B cells; Agammaglobulinemia; Early onset infections

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 10 Aug 2020, 1:14 a.m.
Last Modified: 10 Aug 2020, 1:17 a.m.
Panel version: 0.24

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Agammaglobulinaemia 9, autosomal recessive, MIM# 619693
  • Absent B cells
  • Agammaglobulinemia
  • Early onset infections
OMIM
601416
Clinvar variants
Variants in SLC39A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jan 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC39A7 were changed from Absent B cells; Agammaglobulinemia; Early onset infections to Agammaglobulinaemia 9, autosomal recessive, MIM# 619693; Absent B cells; Agammaglobulinemia; Early onset infections

10 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc39a7 has been classified as Red List (Low Evidence).

10 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc39a7 has been classified as Red List (Low Evidence).

10 Aug 2020, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: SLC39A7 was added gene: SLC39A7 was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A7 were set to 30718914 Phenotypes for gene: SLC39A7 were set to Absent B cells; Agammaglobulinemia; Early onset infections Review for gene: SLC39A7 was set to RED gene: SLC39A7 was marked as current diagnostic