Newborns additional phenotypes panel 1
Gene: ALPLEnsemblGeneIds (GRCh38): ENSG00000162551
EnsemblGeneIds (GRCh37): ENSG00000162551
OMIM: 171760, Gene2Phenotype
ALPL is in 12 panels
1 review
Mafalda Gomes (Genomics England Curator)
Dominant ALPL will not be included initially because the pipeline cannot detect variants based on MOI for specific genes. From modelling analysis with 35k samples, a high number of recessive variants were prioritised in the heterozygous state. Dominant ALPL will not be included until additional pipeline rules are added.Created: 13 Dec 2023, 3:34 p.m. | Last Modified: 13 Dec 2023, 3:34 p.m.
Panel Version: 0.57
The mechanism of pathogenicity is dominant-negative (DN).Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
ALPL curation results (clinicalgenome.org)Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Autosomal dominant hypophosphatasia
- OMIM
- 171760
- Clinvar variants
- Variants in ALPL
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Amelogenesis imperfecta
- Intellectual disability
- Skeletal dysplasia
- DDG2P
- Likely inborn error of metabolism
- Early onset or syndromic epilepsy
- Hypophosphataemia or rickets
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
History Filter Activity
Entity classified by Genomics England curator
Mafalda Gomes (Genomics England Curator)Gene: alpl has been classified as Amber List (Moderate Evidence).
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to ALPL. Added phenotypes Autosomal dominant hypophosphatasia for gene: ALPL Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Amber was added to ALPL. Added phenotypes Autosomal dominant hypophosphatasia for gene: ALPL Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Removed Tag
Mafalda Gomes (Genomics England Curator)Tag dominant-negative was removed from gene: ALPL.
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Phenotypes for gene: ALPL were changed from Autosomal dominant hypophosphatasia; Hypophosphatasia to Autosomal dominant hypophosphatasia
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Red was added to ALPL. Added phenotypes Autosomal dominant hypophosphatasia for gene: ALPL Rating Changed from No List (delete) to Red List (low evidence)
Added New Source, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Removed was added to ALPL. Rating Changed from Red List (low evidence) to No List (delete)
Removed Tag, Added Tag
Mafalda Gomes (Genomics England Curator)Tag GOF was removed from gene: ALPL. Tag dominant-negative tag was added to gene: ALPL.
Added Tag
Mafalda Gomes (Genomics England Curator)Tag GOF tag was added to gene: ALPL.
Removed Tag
Mafalda Gomes (Genomics England Curator)Tag clinical_reviewed was removed from gene: ALPL.
Added Tag
Mafalda Gomes (Genomics England Curator)Tag clinical_reviewed tag was added to gene: ALPL.
Removed Tag
Mafalda Gomes (Genomics England Curator)Tag clinical_reviewed was removed from gene: ALPL.
Added Tag
Mafalda Gomes (Genomics England Curator)Tag clinical_reviewed tag was added to gene: ALPL.
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Mafalda Gomes (Genomics England Curator)gene: ALPL was added gene: ALPL was added to Newborns additional phenotypes panel. Sources: Expert Review Red Mode of inheritance for gene: ALPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ALPL were set to Hypophosphatasia Mode of pathogenicity for gene: ALPL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments