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Fetal anomalies

Gene: P3H1

Green List (high evidence)

P3H1 (prolyl 3-hydroxylase 1)
EnsemblGeneIds (GRCh38): ENSG00000117385
EnsemblGeneIds (GRCh37): ENSG00000117385
OMIM: 610339, Gene2Phenotype
P3H1 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional evidence from PMID:30266093: AR/homozygous variant identified in P3H1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).
Created: 18 Apr 2019, 3:55 p.m.
Additional evidence from PMID:29595812:AR Bi-parental-inherited variant identified in P3H1 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).
Created: 18 Apr 2019, 3:54 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 10:28 a.m.
DDG2P rating in original PAGE list: Confirmed for OSTEOGENESIS IMPERFECTA, TYPE VIII
Created: 11 Dec 2018, 9:05 a.m.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • OSTEOGENESIS IMPERFECTA, TYPE VIII
OMIM
610339
Clinvar variants
Variants in P3H1
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: P3H1 was added gene: P3H1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: P3H1 were set to OSTEOGENESIS IMPERFECTA, TYPE VIII