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  3. SLC39A7
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Predominantly Antibody Deficiency

Gene: SLC39A7

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated families with hypomorphic variants and a mouse model recapitulating phenotype.
Sources: Expert list
Created: 4 Apr 2020, 3:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 4 Apr 2020, 3:47 a.m.

Panel version: 0.93

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Agammaglobulinaemia 9, autosomal recessive, MIM# 619693
  • Antibody deficiency
  • early onset infections
  • blistering dermatosis
  • failure to thrive
  • thrombocytopaenia
OMIM
601416
Clinvar variants
Variants in SLC39A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC39A7 were changed from Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia to Agammaglobulinaemia 9, autosomal recessive, MIM# 619693; Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia

4 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc39a7 has been classified as Green List (High Evidence).

4 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc39a7 has been classified as Green List (High Evidence).

4 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC39A7 was added gene: SLC39A7 was added to Predominantly Antibody Deficiency. Sources: Expert list 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 Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia Review for gene: SLC39A7 was set to GREEN