SLC37A4

solute carrier family 37 member 4
OMIM: 602671, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green SLC37A4 in Vasculitis Level 2: Immunological disorders Version 0.82	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SLC37A4 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation liver dysfunction coagulation deficiency
Green SLC37A4 in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease Ib, MIM# 232220
Red SLC37A4 in Cataract Level 2: Ophthalmological disorders Version 0.366	review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Green SLC37A4 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.44 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIw, MIM# 619525
Green SLC37A4 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation liver dysfunction coagulation deficiency
Green SLC37A4 in Glycogen Storage Diseases Level 2: Metabolic disorders Version 1.2 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease Ib (MIM#232220) Glycogen storage disease Ic (MIM#232240)
Green SLC37A4 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.121 Component of the following Super Panels: Immunological disorders_SuperPanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SLC37A4 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease Ib 232220 Glycogen storage disease Ic 232240 Congenital disorder of glycosylation
Green SLC37A4 in Phagocyte Defects Level 2: Immunological disorders Version 1.29 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Glycogen storage disease Ib, MIM# 232220
Green SLC37A4 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease Ib, 232220 (3)
Green SLC37A4 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glycogen storage disease Ib
Green SLC37A4 in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Liverome Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation
Amber SLC37A4 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Literature Literature Phenotypes Glycogen storage disease Ib 232220 Congenital disorder of glycosylation, type IIw 619525
Green SLC37A4 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease Ib, 232220 (3)
Green SLC37A4 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Glycogen storage disease Ic, MIM# 232240 Glycogen storage disease Ib, MIM# 232220 Congenital disorder of glycosylation, type IIw, MIM# 619525 Tags treatable metabolic
Green SLC37A4 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Literature Phenotypes liver dysfunction Congenital disorder of glycosylation coagulation deficiency
Green SLC37A4 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease Ib, 232220 (3)