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  2. Glycogen storage disease
  3. FBP1
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Glycogen storage disease

Gene: FBP1

Green List (high evidence)
FBP1 (fructose-bisphosphatase 1)
EnsemblGeneIds (GRCh38): ENSG00000165140
EnsemblGeneIds (GRCh37): ENSG00000165140
OMIM: 611570, Gene2Phenotype
FBP1 is in 8 panels

1 review

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fructose-1,6-bisphosphatase deficiency 229700

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Feb 2019, 1:09 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
Phenotypes
  • Fructose-1,6-bisphosphatase deficiency 229700
OMIM
611570
Clinvar variants
Variants in FBP1
Penetrance
None
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: FBP1 was added gene: FBP1 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency 229700