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| Paediatric pseudo-obstruction syndrome v0.216 | DLX1 | Achchuthan Shanmugasundram reviewed gene: DLX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.179 | DLX2 |
Arina Puzriakova Added comment: Comment on list classification: No human cases with pathogenic DLX2 variants reported to date and therefore this gene should be rated Red. Mice lacking DLX1 and DLX2 had slower small bowel transit and reduced or absent neurally-mediated contraction complexes, and have reduced vasoactive intestinal peptide (VIP) expression and fewer VIP-lineage neurons in their enteric nervous system. Small bowel motility seemed normal in adult mice lacking only DLX1 (PMID: 32017713). |
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| Paediatric pseudo-obstruction syndrome v0.178 | DLX1 |
Arina Puzriakova changed review comment from: Comment on list classification: No human cases with pathogenic DLX1 variants reported to date and therefore this gene should be rated Red. Mice lacking DLX1 and DLX2 had slower small bowel transit and reduced or absent neurally-mediated contraction complexes, and have reduced vasoactive intestinal peptide (VIP) expression and fewer VIP-lineage neurons in their enteric nervous system. Small bowel motility seemed normal in adult mice lacking only DLX1.; to: Comment on list classification: No human cases with pathogenic DLX1 variants reported to date and therefore this gene should be rated Red. Mice lacking DLX1 and DLX2 had slower small bowel transit and reduced or absent neurally-mediated contraction complexes, and have reduced vasoactive intestinal peptide (VIP) expression and fewer VIP-lineage neurons in their enteric nervous system. Small bowel motility seemed normal in adult mice lacking only DLX1 (PMID: 32017713). |
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| Paediatric pseudo-obstruction syndrome v0.178 | DLX1 | Arina Puzriakova Classified gene: DLX1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.178 | DLX1 |
Arina Puzriakova Added comment: Comment on list classification: No human cases with pathogenic DLX1 variants reported to date and therefore this gene should be rated Red. Mice lacking DLX1 and DLX2 had slower small bowel transit and reduced or absent neurally-mediated contraction complexes, and have reduced vasoactive intestinal peptide (VIP) expression and fewer VIP-lineage neurons in their enteric nervous system. Small bowel motility seemed normal in adult mice lacking only DLX1. |
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| Paediatric pseudo-obstruction syndrome v0.178 | DLX1 | Arina Puzriakova Gene: dlx1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.177 | DLX1 | Arina Puzriakova Mode of inheritance for gene: DLX1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.176 | DLX1 | Arina Puzriakova Publications for gene: DLX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.175 | DLX1 | Arina Puzriakova Phenotypes for gene: DLX1 were changed from to Abnormal bowel motility in mice | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | DLX1 | Eleanor Williams reviewed gene: DLX1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: massive proximal bowel distention attributed to abnormal motility; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | DLX1 |
Eleanor Williams gene: DLX1 was added gene: DLX1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: DLX1 was set to |
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