SLC31A1

solute carrier family 31 member 1
OMIM: 603085, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber SLC31A1 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neurodegeneration and seizures due to copper transport defect, MIM# 620306
Amber SLC31A1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neurodegeneration and seizures due to copper transport defect, MIM# 620306
Amber SLC31A1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.573	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Neurodegeneration and seizures due to copper transport defect, MIM# 620306
Red SLC31A1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Neurodegeneration and seizures due to copper transport defect, MIM# 620306
Amber SLC31A1 in Metal Metabolism Disorders Level 2: Metabolic disorders Version 0.47 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodegeneration and seizures due to copper transport defect, MIM# 620306
Amber SLC31A1 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neurodegeneration and seizures due to copper transport defect, MIM# 620306