Paediatric pseudo-obstruction syndrome

Gene: ERBB2

Red List (low evidence)

The rating of this gene has been updated to Red 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 for this gene should be RED, as the disease association was identified from only one family.

A Turkish female proband identified with biallelic variants (c.2129C>T/ p.Ala710Val) was reported with arthrogryposis, peripheral neuropathy, hearing loss and ptosis. Her brother with the same variant had similar clinical presentation with short-segment Hirschsprung disease (HSCR). In addition, histology revealed a lack of ganglion cells and a hyperplasia of nerve fibers in the colon resection specimen of the brother.

This gene-disease association is reported in OMIM, but not in Gene2Phenotype.

Created: 20 Dec 2022, 4:44 p.m. | Last Modified: 20 Dec 2022, 9:15 p.m.

Panel Version: 0.29

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Visceral neuropathy, familial, 2, autosomal recessive, OMIM:619465

Publications

• 33497358

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