SLC40A1

solute carrier family 40 member 1
OMIM: 604653, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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 3.18 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 2.58 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 3.78 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