1. Panels
  2. Bone Marrow Failure
  3. SLC30A7
STRs in panel
Prev Next
Regions in panel
Prev Next

Bone Marrow Failure

Gene: SLC30A7

Red List (low evidence)
SLC30A7 (solute carrier family 30 member 7)
EnsemblGeneIds (GRCh38): ENSG00000162695
EnsemblGeneIds (GRCh37): ENSG00000162695
OMIM: 611149, Gene2Phenotype
SLC30A7 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two sibs reported with compound het variants in this gene and severe growth failure, testicular hypoplasia and progressive bone marrow failure.
Sources: Expert Review
Created: 3 Sep 2023, 2:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ziegler-Huang syndrome, MIM# 620501

Publications

Created: 3 Sep 2023, 2:38 a.m.

Panel version: 1.51

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Ziegler-Huang syndrome, MIM# 620501
OMIM
611149
Clinvar variants
Variants in SLC30A7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc30a7 has been classified as Red List (Low Evidence).

3 Sep 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC30A7 was added gene: SLC30A7 was added to Bone Marrow Failure. Sources: Expert Review Mode of inheritance for gene: SLC30A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC30A7 were set to 36821639 Phenotypes for gene: SLC30A7 were set to Ziegler-Huang syndrome, MIM# 620501 Review for gene: SLC30A7 was set to RED