Gastrointestinal neuromuscular disorders
Gene: RETComment on list classification: Clinical overlap with Hirschsprung.Created: 25 Oct 2016, 4 p.m.
See PMID: 23605783 as a review of Hirschsprung disease (HSCR): "most commonly presents sporadically with reduced penetrance and male predominance, although it can be familial and may be inherited as autosomal dominant or autosomal recessive. In 70% of cases, HSCR occurs as an isolated trait and in the other 30% HSCR is associated with other congenital malformation syndromes. HSCR has a complex genetic etiology with several genes and loci being described as associated with either isolated or syndromic forms."..."the RET proto-oncogene is considered the major disease causing gene in HSCR. A common RET variant within the conserved transcriptional enhancer sequence in intron 1 has been shown to be associated with a great proportion of sporadic cases and could act as a modifier by modulating the penetrance of mutations in other genes and possibly of those mutations in the RET proto-oncogene itself. "Created: 19 Oct 2016, 10:20 a.m.
I am unsure whether this gene should be green due to the contribution of variants in other genes, such as EDNRB, may modulate the disease and a complex, polygenic mechanism of inheritance has been suggested. See publications. PMID: 9090527 - report case of a child with severe Hirschsprung disease (total colonic aganglionosis with small bowel involvement) who had a homozygous variant in the RET gene. Most other variants reported seem to be heterozygous.Created: 19 Oct 2016, 9:35 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
This gene has been classified as Green List (High Evidence).
Publications for RET were set to 8114938; 8114939; 9090527; 7581377; 9700200; 9760196; 10090908; 8001158; 10090908; 10922382; 15829955;11953745
Publications for RET were set to 8114938; 8114939; 9090527; 7581377; 9700200; 9760196; 10090908; 8001158; 10090908; 10922382; 15829955
Mode of inheritance for RET was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for RET were set to {Hirschsprung disease, susceptibility to, 1} 142623
RET was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: UKGTN
RET was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
RET was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
RET was created by sleigh