Paediatric pseudo-obstruction syndrome
Gene: DLX1
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 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).Created: 3 Jan 2023, 2:15 p.m. | Last Modified: 3 Jan 2023, 2:18 p.m.
Panel Version: 0.178
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Other. Protein function: highly conserved homeobox transcription factors. Other information: animal studies.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
Phenotypes
massive proximal bowel distention attributed to abnormal motility
Gene: dlx1 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: DLX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLX1 were set to
Phenotypes for gene: DLX1 were changed from to Abnormal bowel motility in mice
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