SLC40A1

solute carrier family 40 member 1
OMIM: 604653, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Red SLC40A1 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemochromatosis, type 4 606069
Green SLC40A1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hemochromatosis, type 4 606069
Green SLC40A1 in Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.41

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hemochromatosis, type 4 606069
Red SLC40A1 in Hypogonadotropic hypogonadism (GMS)


Version 3.15
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • Expert Review Red
  • NHS GMS
  • South West GLH
Phenotypes
  • Haemochromatosis type 4 (OMIM 606069)
Green SLC40A1 in Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hemochromatosis, type 4 606069
No list SLC40A1 in Monogenic diabetes


Version 2.57
Latest signed off version: v2.2 (25 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
Phenotypes
  • Hemochromatosis, type 4 606069
Tags
  • curated_removed
Green SLC40A1 in Iron metabolism disorders - NOT common HFE mutations


Version 2.6
Latest signed off version: v2.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Hemochromatosis, type 4 OMIM:606069
  • hemochromatosis type 4 MONDO:0011631
Green SLC40A1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary haemochromatosis Type 4 (Disorder of iron metabolism)
  • Hemochromatosis, type 4 606069 (Disorder of iron metabolism)
Green SLC40A1 in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Hemochromatosis, type 4 606069 (Disorder of iron metabolism)
    • Hereditary haemochromatosis Type 4 (Disorder of iron metabolism)
    Red SLC40A1 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green SLC40A1 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hemochromatosis, type 4, 606069