SLC30A10

solute carrier family 30 member 10
OMIM: 611146, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green SLC30A10 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0013208

Red SLC30A10 in Cholestasis


Level 2: Gastroenterological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypermanganesemia with dystonia 1, MIM# 613280

Green SLC30A10 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypermanganesemia with dystonia 1, MIM# 613280

Green SLC30A10 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypermanganesemia with dystonia 1, MIM# 613280

Green SLC30A10 in Dystonia and Chorea


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280

Green SLC30A10 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 (3)

Green SLC30A10 in Red cell disorders


Level 2: Haematological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280

Green SLC30A10 in Liver Failure_Paediatric


Level 2: Gastroenterological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypermanganesemia with dystonia 1, MIM# 613280

Green SLC30A10 in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypermanganesemia with dystonia 1, MIM# 613280

Green SLC30A10 in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • hypermanganesemia syndrome MONDO:0013208
  • Disorders of magnesium metabolism

Green SLC30A10 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypermanganesemia with dystonia 1, MIM#613280

Green SLC30A10 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypermanganesemia with dystonia 1, MIM# 613280
Tags
  • treatable
  • metabolic