Hypophosphataemia or rickets
Gene: ALPLThe 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
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
Tag for-review was removed from gene: ALPL.
Source Expert Review Green was added to ALPL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: ALPL.
Gene: alpl has been classified as Amber List (Moderate Evidence).
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
Phenotypes for gene: ALPL were changed from Hypophosphatasia, infantile, MIM# 241500 to Hypophosphatasia, infantile, 241500; Hypophosphatasia, childhood, 241500
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