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| Hirschsprung disease v0.18 | ERBB3 | Zornitza Stark Phenotypes for gene: ERBB3 were changed from Complex neurocristinopathy to Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.17 | ERBB3 | Zornitza Stark edited their review of gene: ERBB3: Changed phenotypes: Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180, Complex neurocristinopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.17 | ERBB3 | Zornitza Stark Phenotypes for gene: ERBB3 were changed from Hirschsprung disease; Arthrogryposis to Complex neurocristinopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.16 | ERBB3 | Zornitza Stark Publications for gene: ERBB3 were set to 33720042 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.15 | ERBB3 | Zornitza Stark reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33497358; Phenotypes: Complex neurocristinopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.15 | ERBB3 | Zornitza Stark Phenotypes for gene: ERBB3 were changed from Hirschsprung disease (HSCR) aganglionic megacolon, MIM#142623 to Hirschsprung disease; Arthrogryposis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.13 | ERBB3 | Alison Yeung Marked gene: ERBB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.13 | ERBB3 | Alison Yeung Gene: erbb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.13 | ERBB3 | Alison Yeung Classified gene: ERBB3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.13 | ERBB3 | Alison Yeung Gene: erbb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.12 | ERBB3 |
Teresa Zhao gene: ERBB3 was added gene: ERBB3 was added to Hirschsprung disease. Sources: Literature Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERBB3 were set to 33720042 Phenotypes for gene: ERBB3 were set to Hirschsprung disease (HSCR) aganglionic megacolon, MIM#142623 Review for gene: ERBB3 was set to GREEN Added comment: Seven variants (missense and frameshfit) from four independent families with Hirschsprung disease (HSCR) reported. All reported individuals variably associated with conditions such as HSCR, chronic intestinal pseudo-obstruction, peripheral neuropathy, and arthrogryposis. Functional study revealed mutant proteins reduced protein expression or altered phosphorylation of the mutant receptors. Sources: Literature |
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