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COVID-19 research

Gene: ALPI

Green List (high evidence)
ALPI (alkaline phosphatase, intestinal)
EnsemblGeneIds (GRCh38): ENSG00000163295
EnsemblGeneIds (GRCh37): ENSG00000163295
OMIM: 171740, Gene2Phenotype
ALPI is in 2 panels

3 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

IUIS gene
Created: 27 Apr 2020, 11:49 a.m. | Last Modified: 27 Apr 2020, 11:49 a.m.
Panel Version: 0.163

Phenotypes
inflammatory bowel disease

Created: 27 Apr 2020, 11:49 a.m.
Last Modified: 27 Apr 2020, 11:49 a.m.
Panel version: 0.163

Eleanor Williams (Genomics England Curator)

Not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 29567797 - Parlato et al 2018- report ALPI mutations in two unrelated patients with severe intestinal inflammation and autoimmunity. WES was used. Patient 1 - non‐consanguineous parents. At 2 years old was diagnosed with coeliac disease from HLA-typing. At age 3 had recurrent abdominal pain, rectal bleeding and severe diarrhoea. Patient 2 - non‐consanguineous parents of Jewish Ashkenazi origin. Age 15 he was diagnosed with ileocolonic Crohn's disease. Compound heterozygous mutations in the ALPI gene were found in both patients. Three variants result in the substitution of residues highly conserved across species (A97T, A350V and A360) and one variant (Q439X) introducing a premature stop codon. Functional studies in HEK293T cells showed that all ALPI mutations were loss of function. ALPI expression was reduced in patients’ biopsies.

Rated Amber by Zornitza Stark on the PID panel.
Created: 23 Apr 2020, 2:09 a.m. | Last Modified: 23 Apr 2020, 2:09 a.m.
Panel Version: 0.137
Created: 23 Apr 2020, 2:09 a.m.
Last Modified: 23 Apr 2020, 2:09 a.m.
Panel version: 0.137

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36

Publications

Created: 28 Feb 2020, 8:49 p.m.
Last Modified: 28 Feb 2020, 8:49 p.m.
Panel version: Imported from Primary immunodeficiency panel version 2.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2019
Phenotypes
  • Autoinflammatory Disorders
  • ALPI deficiency
  • Inflammatory bowel disease
OMIM
171740
Clinvar variants
Variants in ALPI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to ALPI. Added phenotypes Inflammatory bowel disease; ALPI deficiency; Autoinflammatory Disorders for gene: ALPI Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ALPI was added gene: ALPI was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: ALPI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALPI were set to 32086639; 32048120; 29567797 Phenotypes for gene: ALPI were set to Inflammatory bowel disease; ALPI deficiency; Autoinflammatory Disorders