Miscellaneous Metabolic Disorders
Gene: SLC39A4EnsemblGeneIds (GRCh38): ENSG00000147804
EnsemblGeneIds (GRCh37): ENSG00000147804
OMIM: 607059, Gene2Phenotype
SLC39A4 is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 3 unrelated families reported.
Sources: Expert listCreated: 6 Feb 2021, 3:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Acrodermatitis enteropathica MIM#201100; (Disorder of zinc metabolism)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Acrodermatitis enteropathica MIM#201100
- (Disorder of zinc metabolism)
- OMIM
- 607059
- Clinvar variants
- Variants in SLC39A4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Metal Metabolism Disorders
- Intellectual disability syndromic and non-syndromic
- Epidermolysis bullosa
- Congenital Diarrhoea
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc39a4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc39a4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC39A4 was added gene: SLC39A4 was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A4 were set to 27604308; 12068297 Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica MIM#201100; (Disorder of zinc metabolism) Review for gene: SLC39A4 was set to GREEN