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Craniosynostosis

Gene: ALPL

Green List (high evidence)
ALPL (alkaline phosphatase, liver/bone/kidney)
EnsemblGeneIds (GRCh38): ENSG00000162551
EnsemblGeneIds (GRCh37): ENSG00000162551
OMIM: 171760, Gene2Phenotype
ALPL is in 19 panels

1 review

Tiong Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Comment on list classification: Known manifestation of hypophosphatasia. Can precede other features
Created: 3 Jun 2020, 10:49 a.m. | Last Modified: 3 Jun 2020, 10:49 a.m.
Panel Version: 0.17
Comment on list classification: Known manifestation of hypophosphatasia. Can precede other features
Created: 3 Jun 2020, 10:49 a.m. | Last Modified: 3 Jun 2020, 10:49 a.m.
Panel Version: 0.17
Comment on list classification: Known manifestation of hypophosphatasia; can precede other features
Created: 3 Jun 2020, 10:48 a.m. | Last Modified: 3 Jun 2020, 10:48 a.m.
Panel Version: 0.16
Sources: Literature
Created: 3 Jun 2020, 10:47 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
241500 HYPOPHOSPHATASIA, INFANTILE

Publications

Created: 3 Jun 2020, 10:47 a.m.

Panel version: 0.15

History Filter Activity

21 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ALPL.

3 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

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

3 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

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

3 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

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

3 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

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

3 Jun 2020, Gel status: 1

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: ALPL was added gene: ALPL was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ALPL were set to 29405940; 26590809; 30979546; 31754721 Phenotypes for gene: ALPL were set to 241500 HYPOPHOSPHATASIA, INFANTILE Penetrance for gene: ALPL were set to unknown Review for gene: ALPL was set to GREEN