Paediatric pseudo-obstruction syndrome
Gene: ERBB2
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
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
Publications for gene: ERBB2 were set to 33497358
Publications for gene: ERBB2 were set to
Phenotypes for gene: ERBB2 were changed from to Visceral neuropathy, familial, 2, autosomal recessive, OMIM:619465
Mode of inheritance for gene: ERBB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: ERBB2 was added gene: ERBB2 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: ERBB2 was set to