FBP1

fructose-bisphosphatase 1
OMIM: 611570, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green FBP1 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 Fructose-1,6-bisphosphatase deficiency, MIM# 229700
Green FBP1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes fructose-1,6-bisphosphatase deficiency MONDO:0009251
Green FBP1 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 Fructose-1,6-bisphosphatase deficiency, 229700 (3)
Green FBP1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Fructose-1,6-bisphosphatase deficiency MIM# 229700
Green FBP1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fructose-1,6-bisphosphatase deficiency, 229700 (3)
Green FBP1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Expert list Phenotypes Fructose-1,6-bisphosphatase deficiency MIM# 229700 Tags treatable metabolic
Green FBP1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fructose-1,6-bisphosphatase deficiency, 229700 (3)