GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ALPL

ALPL (alkaline phosphatase, liver/bone/kidney)
EnsemblGeneIds (GRCh38): ENSG00000162551
EnsemblGeneIds (GRCh37): ENSG00000162551
OMIM: 171760, Gene2Phenotype
ALPL is in 12 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Clinical features were early loss of teeth, bowed legs diagnosed as rickets and requiring osteotomy, and beaten-copper appearance of skull x-ray. Variable severity. green - Abnormal mineralization gp of SD. multiple families; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
hypophosphatasia; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

hypophosphatasia
skeletal dysplasias
Osteogenesis Imperfecta and Decreased Bone Density

OMIM

171760

Clinvar variants

Variants in ALPL

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: ALPL was added gene: ALPL was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: ALPL were set to hypophosphatasia; skeletal dysplasias; Osteogenesis Imperfecta and Decreased Bone Density

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: ALPL