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Paediatric pseudo-obstruction syndrome

Gene: DLX1

Red List (low evidence)
DLX1 (distal-less homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000144355
EnsemblGeneIds (GRCh37): ENSG00000144355
OMIM: 600029, Gene2Phenotype
DLX1 is in 1 panel

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

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
Created: 1 Feb 2023, 7:44 a.m.
Last Modified: 1 Feb 2023, 7:44 a.m.
Panel version: 0.216

Arina Puzriakova (Genomics England Curator)

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
Created: 3 Jan 2023, 2:15 p.m.
Last Modified: 3 Jan 2023, 2:18 p.m.
Panel version: 0.178

Eleanor Williams (Genomics England Curator)

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

Created: 20 Dec 2022, 3:32 p.m.
Last Modified: 20 Dec 2022, 3:32 p.m.
Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Abnormal bowel motility in mice
OMIM
600029
Clinvar variants
Variants in DLX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2023, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: dlx1 has been classified as Red List (Low Evidence).

3 Jan 2023, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: DLX1 was changed from to BIALLELIC, autosomal or pseudoautosomal

3 Jan 2023, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: DLX1 were set to

3 Jan 2023, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DLX1 were changed from to Abnormal bowel motility in mice

20 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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