GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: P4HB

P4HB (prolyl 4-hydroxylase subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000185624
EnsemblGeneIds (GRCh37): ENSG00000185624
OMIM: 176790, Gene2Phenotype
P4HB is in 7 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

OI and decreasing bone density gp of SD - >3 cases. recurrent Y393C variant + intragenic deletion. LOF variants unknown aetiology.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cole-Carpenter syndrome 1 112240

Publications

Mode of pathogenicity
Other - please provide details in the comments

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

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Cole-Carpenter syndrome 1 112240

OMIM

176790

Clinvar variants

Variants in P4HB

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: P4HB was added gene: P4HB was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1 112240

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: P4HB