SLC39A14

solute carrier family 39 member 14
OMIM: 608736, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green SLC39A14 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
  • Hypermanganesemia with dystonia 2 (MIM# 617013)

Green SLC39A14 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypermanganesemia with dystonia 2, MIM# 617013

Green SLC39A14 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hypermanganesemia with dystonia 2, MIM# 617013

Green SLC39A14 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Hypermanganesemia with dystonia 2 (MIM# 617013)

Green SLC39A14 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
  • Hypermanganesemia with dystonia 2 617013

Green SLC39A14 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 2, 617013 (3), Autosomal recessive

Green SLC39A14 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 2, MIM# 617013

Green SLC39A14 in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • hypermanganesemia with dystonia 2 MONDO:0014864
  • Disorders of magnesium metabolism

Green SLC39A14 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypermanganesaemia with dystonia 2, MIM# 617013

Amber SLC39A14 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypermanganesemia with dystonia 2, MIM# 617013
Tags
  • for review
  • treatable
  • metabolic