Metal Metabolism Disorders
Gene: SLC33A1
SLC33A1 (solute carrier family 33 member 1)
EnsemblGeneIds (GRCh38): ENSG00000169359
EnsemblGeneIds (GRCh37): ENSG00000169359
OMIM: 603690, Gene2Phenotype
SLC33A1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000169359
EnsemblGeneIds (GRCh37): ENSG00000169359
OMIM: 603690, Gene2Phenotype
SLC33A1 is in 13 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Disorders of copper metabolism
- Huppke-Brendel syndrome MONDO:0013772
- OMIM
- 603690
- Clinvar variants
- Variants in SLC33A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Hereditary Spastic Paraplegia - adult onset
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Cataract
- Metal Metabolism Disorders
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
History Filter Activity
20 May 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SLC33A1 was added gene: SLC33A1 was added to Metal Metabolism Disorders. Sources: Expert Review Green Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC33A1 were set to 31194315 Phenotypes for gene: SLC33A1 were set to Disorders of copper metabolism; Huppke-Brendel syndrome MONDO:0013772