Hydrocephalus
Gene: P4HB
PMID:25683117. 2 unrelated individuals (white) with multiple fractures, hydrocephalus, craniosynostosis, ocular proptosis, macrocephaly and distinct facial features. Both were heterozygous for the same variant (c.1178A>G, Y393C).
PMID:29384951. Chinese patient with microcephaly (-2 to -1 SD), ocular proptosis, frontal bossing, craniosynostosis, growth retardation, osteopenia and distinctive facial features. Patient did not have hydrocephalus or factures. Heterozygous for exon 5 - 8 deletion.
PMID:29263160. White patient with the same variant as the first 2 cases (c.1178A>G). Had fractures, ocular proptosis, failure to thrive and macrocephaly. Patient did not have hydrocephalus.
PMID:30063094. Thai patient with the same variant as bove (c.1178A>G). Patient had osteopenia, fractures, ocular proptosis and may have growth failure (weight < 3rd centile, length < 3rd centile). No macrocephlay or hydrocephalus.
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (probable). As only 2/5 patients have hydrocephalus this gene will be kept as Amber until more cases are available.Created: 19 Jul 2021, 10:12 a.m. | Last Modified: 19 Jul 2021, 10:12 a.m.
Panel Version: 2.114
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.Created: 8 Aug 2020, 1:11 a.m. | Last Modified: 8 Aug 2020, 1:11 a.m.
Panel Version: 2.5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cole-Carpenter syndrome 1, MIM#112240
Publications
Variants in this GENE are reported as part of current diagnostic practice
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Only two unrelated cases to date, with the same mutation. Amber and watchlist at presentCreated: 9 May 2017, 1:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cole-Carpenter syndrome 1
Publications
Phenotypes for gene: P4HB were changed from Cole-Carpenter syndrome 1 to Cole-Carpenter syndrome 1, OMIM:112240
Publications for gene: P4HB were set to 25683117
Source NHS GMS was added to P4HB.
31.05.2017 - panel revised after internal curation and clinical review.
P4HB was added to Hydrocephaluspanel. Source: Expert Review Amber
P4HB was created by helen.brittain
P4HB was added to Hydrocephaluspanel. Sources: Literature