Categories: Growth / size / body region phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant with incomplete penetrance

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2022

Species-specific description: Grohs et al. (2022): "this study expands the clinical spectrum of TWIST1 haploinsufficiency in Mammals by reporting the first evidence (to our knowledge) of abdominal hernia in a small proportion of cattle heterozygous for a natural frameshift variant"

Inheritance: Grohs et al. (2022): "Pedigree analysis suggested an autosomal dominant inheritance with incomplete penetrance and revealed that all cases descended from one founder of the French polled Charolais population born in 1988 (DEDAIN: CHAFRAM009588100135".

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

Breed: Charolais (Cattle) (VBO_0000177).
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: