Categories: Renal / urinary system phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: no

Mapping: Chromosome 1: 96,169,900-97,123,740 (UMD3.1 genome assembly) (Pausch et al., 2015)

Molecular basis: Frameshift indel: c.771_778delTTGAAAAGinsCATC (rs379675307) in SLC2A2 that encodes glucose transporter 2 (GLUT2)(Pausch et al., 2015).

Burgstaller et al. (2016) have provided strong evidence that this FH2 frameshift mutation is actually causative of Fanconi-Bickel syndrome (OMIA 000366-9913). Accordingly, the likely causal mutation is now listed under this disorder rather than in this entry.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: Simmental (Cattle) (VBO_0000380).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene: