Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: ALPIEnsemblGeneIds (GRCh38): ENSG00000163295
EnsemblGeneIds (GRCh37): ENSG00000163295
OMIM: 171740, Gene2Phenotype
ALPI is in 2 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
This gene has been confirmed for this panel by the NHS Genomic Medicine Service as the eligibility criteria of R15 has been extended to include IBD genes and should be rated green.Created: 8 Mar 2022, 3:09 p.m. | Last Modified: 8 Mar 2022, 3:09 p.m.
Panel Version: 2.536
Eleanor Williams (Genomics England Curator)
Comment on list classification: Changing rating from red to amber. 2 cases reported plus some functional data.Created: 23 Apr 2020, 2:11 a.m. | Last Modified: 23 Apr 2020, 2:11 a.m.
Panel Version: 2.128
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.Created: 23 Apr 2020, 2:08 a.m. | Last Modified: 23 Apr 2020, 2:09 a.m.
Panel Version: 2.127
Zornitza Stark (Australian Genomics)
Two unrelated individuals, some functional data.Created: 9 Apr 2020, 12:39 a.m. | Last Modified: 9 Apr 2020, 12:39 a.m.
Panel Version: 2.46
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Inflammatory bowel disease
Publications
Louise Daugherty (Genomics England Curator)
Added publication referenced by IUIS december 2019 updateCreated: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- IUIS Classification December 2019
- Phenotypes
-
- Intestinal Alkaline Phosphatase deficiency
- Inflammatory bowel disease
- Autoinflammatory Disorders
- ALPI deficiency
- Tags
- OMIM
- 171740
- Clinvar variants
- Variants in ALPI
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Catherine Snow (Genomics England)Tag gene-checked tag was added to gene: ALPI.
Added New Source, Set Phenotypes, Set publications, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to ALPI. Added phenotypes Intestinal Alkaline Phosphatase deficiency for gene: ALPI Publications for gene: ALPI were updated from 32086639; 32048120; 29567797 to 32048120; 29567797; 32086639 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: alpi has been classified as Amber List (Moderate Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene ALPI were updated from 32086639; 32048120 to 32086639; 32048120; 29567797
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)gene: ALPI was added gene: ALPI was added to Primary immunodeficiency. 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 Phenotypes for gene: ALPI were set to Autoinflammatory Disorders; ALPI deficiency; Inflammatory bowel disease