Paediatric pseudo-obstruction syndrome
Gene: ERBB3
The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Comment on classification of this gene: The rating should be GREEN as this gene has been implicated in visceral neuropathy from six affected individuals from four unrelated families.
These individuals harboured biallelic variants: c.2359A>C/ c.2695G>A, c.3297delG, c.2618C>G/ c.2795A>G & c.556delT/ c.2269dupA. Five out of six of these individuals (except one of the two from family 3 - harbouring variants c.2618C>G/ c.2795A>G) were reported with Hirschsprung disease (HSCR), individual from family 1 had hypoganglionosis, intestinal smooth muscle abnormalities, chronic intestinal pseudo-obstruction and peripheral neuropathy, and individuals from families 3 and 4 had Arthrogryposis.
This gene-disease association was also reported in both OMIM and Gene2Phenotype.Created: 20 Dec 2022, 9:12 p.m. | Last Modified: 20 Dec 2022, 9:12 p.m.
Panel Version: 0.25
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Visceral neuropathy, familial, 1, autosomal recessive, OMIM:243180
Publications
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Genes involved in Hirschsprung disease (HSCR) in humans and models of megacolon. Protein function: essential role in the regulation of cell proliferation, survival, and differentiation; activation of various signaling cascades including phosphatidylinositol 3-kinase (PI3K)/AKT and extracellular signal-regulated kinase (ERK) signaling.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
Unknown
Phenotypes
Aganglionosis, hypoganglionosis, and intestinal smooth muscle abnormalities
Publications
Publications for gene: ERBB3 were set to
Phenotypes for gene: ERBB3 were changed from to Visceral neuropathy, familial, 1, autosomal recessive, OMIM:243180
Mode of inheritance for gene: ERBB3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: erbb3 has been classified as Green List (High Evidence).
gene: ERBB3 was added gene: ERBB3 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: ERBB3 was set to