Hypophosphataemia or rickets
Gene: ALPLEnsemblGeneIds (GRCh38): ENSG00000162551
EnsemblGeneIds (GRCh37): ENSG00000162551
OMIM: 171760, Gene2Phenotype
ALPL is in 12 panels
2 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 2:10 p.m. | Last Modified: 3 Mar 2022, 2:10 p.m.
Panel Version: 2.16
Comment on list classification: This gene is associated with an appropriate phenotype in OMIM and Gene2Phenotype and there is enough evidence to support a gene-disease association. However, phosphate levels in the blood is normal for this phenotype. After consultation with the Genomics England Clinical Team, I have given this gene an Amber gene rating and tagged with "for-review" so that GMS experts can consider this gene in the scope of testing for the next iteration.Created: 30 Nov 2020, 10:11 a.m. | Last Modified: 30 Nov 2020, 10:11 a.m.
Panel Version: 2.12
Zornitza Stark (Australian Genomics)
Fractures, poor mineralisation, rachitic rosary.
Sources: Expert listCreated: 8 Aug 2020, 4:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypophosphatasia, infantile, MIM# 241500
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hypophosphatasia, infantile, OMIM:241500, MONDO:0009427
- Hypophosphatasia, childhood, OMIM:241500, MONDO:0009428
- OMIM
- 171760
- Clinvar variants
- Variants in ALPL
- Penetrance
- None
- Panels with this gene
-
- DDG2P
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Hypophosphataemia or rickets
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Amelogenesis imperfecta
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: ALPL.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to ALPL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: ALPL.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: alpl has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ALPL were changed from Hypophosphatasia, infantile, 241500; Hypophosphatasia, childhood, 241500 to Hypophosphatasia, infantile, OMIM:241500, MONDO:0009427; Hypophosphatasia, childhood, OMIM:241500, MONDO:0009428
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ALPL were changed from Hypophosphatasia, infantile, MIM# 241500 to Hypophosphatasia, infantile, 241500; Hypophosphatasia, childhood, 241500
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: ALPL was added gene: ALPL was added to Hypophosphataemia or rickets. Sources: Expert list Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALPL were set to Hypophosphatasia, infantile, MIM# 241500 Review for gene: ALPL was set to GREEN