Hydrocephalus_Ventriculomegaly
Gene: P4HBEnsemblGeneIds (GRCh38): ENSG00000185624
EnsemblGeneIds (GRCh37): ENSG00000185624
OMIM: 176790, Gene2Phenotype
P4HB is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four unrelated individuals reported with same recurrent de novo missense variant, p.Tyr393Cys, and an additional individual with de novo intragenic deletion of exons 5-8. Hydrocephalus is part of the phenotype.
Sources: Expert listCreated: 8 Aug 2020, 1:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cole-Carpenter syndrome 1, MIM#112240
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Cole-Carpenter syndrome 1, MIM#112240
- OMIM
- 176790
- Clinvar variants
- Variants in P4HB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: p4hb has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: p4hb has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: P4HB was added gene: P4HB was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: P4HB were set to 30063094; 29263160; 25683117; 29384951 Phenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1, MIM#112240 Review for gene: P4HB was set to GREEN