P4HB

prolyl 4-hydroxylase subunit beta
OMIM: 176790, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green P4HB in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Cole-Carpenter syndrome 1, MIM# 112240
Green P4HB in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.123	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Cole-Carpenter syndrome 1, MIM#112240
Green P4HB in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cole-Carpenter syndrome 1, MIM#112240
Green P4HB in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders Version 0.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cole-Carpenter syndrome 1, MIM#112240
Green P4HB in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert Review NHS GMS Victorian Clinical Genetics Services Phenotypes Cole-Carpenter syndrome 1 112240 Cole-Carpenter syndrome 1 112240
Green P4HB in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Cole-Carpenter syndrome 1, OMIM:112240 Cole-Carpenter syndrome 1, MONDO:0007204
Green P4HB in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cole-Carpenter syndrome 1, MIM#112240