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  2. Craniosynostosis
  3. P4HB
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Craniosynostosis

Gene: P4HB

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Craniosynostosis is a feature of this syndrome. Note recurrent de novo missense variant, p.Tyr393Cys.
Sources: Expert list
Created: 3 Jul 2020, 3:59 a.m. | Last Modified: 8 Aug 2020, 1:15 a.m.
Panel Version: 0.134

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cole-Carpenter syndrome 1, MIM# 112240

Publications

Created: 3 Jul 2020, 3:59 a.m.
Last Modified: 8 Aug 2020, 1:15 a.m.
Panel version: 0.134

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

8 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: P4HB were set to 25683117; 29384951

3 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: p4hb has been classified as Green List (High Evidence).

3 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: p4hb has been classified as Green List (High Evidence).

3 Jul 2020, Gel status: 1

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 Craniosynostosis. 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 25683117; 29384951 Phenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1, MIM# 112240 Review for gene: P4HB was set to GREEN