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| Paediatric pseudo-obstruction syndrome v0.216 | ERBB2 | Achchuthan Shanmugasundram commented on 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.30 | ERBB2 | Achchuthan Shanmugasundram Publications for gene: ERBB2 were set to 33497358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.29 | ERBB2 |
Achchuthan Shanmugasundram changed review comment from: 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.; to: 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. |
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| Paediatric pseudo-obstruction syndrome v0.29 | ERBB2 |
Achchuthan Shanmugasundram changed review comment from: 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.; to: 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. |
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| Paediatric pseudo-obstruction syndrome v0.20 | ERBB2 | Achchuthan Shanmugasundram Publications for gene: ERBB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.19 | ERBB2 | Achchuthan Shanmugasundram Phenotypes for gene: ERBB2 were changed from to Visceral neuropathy, familial, 2, autosomal recessive, OMIM:619465 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.18 | ERBB2 | Achchuthan Shanmugasundram Mode of inheritance for gene: ERBB2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.17 | ERBB2 | Achchuthan Shanmugasundram reviewed gene: ERBB2: Rating: RED; Mode of pathogenicity: None; Publications: 33497358; Phenotypes: Visceral neuropathy, familial, 2, autosomal recessive, OMIM:619465; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | ERBB2 | Eleanor Williams reviewed gene: ERBB2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | ERBB2 |
Eleanor Williams 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 |
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