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  3. ALPI
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Inflammatory bowel disease

Gene: ALPI

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

2 reviews

Lavvina Thiyagarajan (Sydney Children's Hospital Network)

I don't know

2 unrelated individuals with inflammatory bowel disease. Some functional evidence. Additional recent publication (PMID: 32084423) in 2020 but no new individuals identified (patient described has previously been reported).
Created: 25 Feb 2021, 10 a.m. | Last Modified: 25 Feb 2021, 10 a.m.
Panel Version: 0.40

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Inflammatory bowel disease

Publications

Created: 25 Feb 2021, 10 a.m.
Last Modified: 25 Feb 2021, 10 a.m.
Panel version: 0.40

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Comment when marking as ready: Family reported in PMID 32084423 is actually already previously reported.
Created: 25 Feb 2021, 9:50 a.m. | Last Modified: 25 Feb 2021, 9:50 a.m.
Panel Version: 0.40
Two unrelated individuals, some functional data.
Sources: Expert list
Created: 5 Apr 2020, 11:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Inflammatory bowel disease, MONDO:0005265, ALPI-related

Publications

Created: 5 Apr 2020, 11:41 p.m.

Panel version: 0.107

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Inflammatory bowel disease, MONDO:0005265, ALPI-related
OMIM
171740
Clinvar variants
Variants in ALPI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Sep 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALPI were changed from Inflammatory bowel disease to Inflammatory bowel disease, MONDO:0005265, ALPI-related

25 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alpi has been classified as Amber List (Moderate Evidence).

25 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alpi has been classified as Amber List (Moderate Evidence).

24 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALPI were set to 29567797

24 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alpi has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alpi has been classified as Amber List (Moderate Evidence).

5 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alpi has been classified as Amber List (Moderate Evidence).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALPI was added gene: ALPI was added to Inflammatory bowel disease. Sources: Expert list Mode of inheritance for gene: ALPI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALPI were set to 29567797 Phenotypes for gene: ALPI were set to Inflammatory bowel disease Review for gene: ALPI was set to AMBER