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| Skeletal dysplasia v1.238 | P4HB | Eleanor Williams Mode of pathogenicity for gene: P4HB was changed from Other to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.237 | P4HB | Eleanor Williams Added comment: Comment on mode of pathogenicity: 1 missense variant reported to date + deletion of several exons. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.237 | P4HB | Eleanor Williams Mode of pathogenicity for gene: P4HB was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.236 | P4HB | Eleanor Williams Classified gene: P4HB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.236 | P4HB |
Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. > 3 cases. Including OI genes on this panel. |
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| Skeletal dysplasia v1.236 | P4HB | Eleanor Williams Gene: p4hb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.159 | P4HB |
Eleanor Williams commented on gene: P4HB: Associated with Cole-Carpenter syndrome 1 (112240) in OMIM. PMID: 25683117 - Rauch et al. (2015) - 2 cases. 2 unrelated male patients with Cole-Carpenter syndrome-1, who exhibited multiple fractures of the long bones as well as craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features/ Identified heterozygosity for the same missense mutation in the P4HB gene ( c.1178A-G transition, Y393C) in both patients. In one the mutation occured de novo, in the other the unaffected father was mosaic for the variant. PMID: 29384951 - Ouyang and Yang 2017 - 1 case. A 14-month-old Chinese girl presented with prominent ocular proptosis, frontal bossing, craniosynostosis, plump anterior fontanel, growth retardation, osteopenia, and distinctive facial features. Her clinical manifestation is similar to the 2 cases previously described with Cole–Carpenter syndrome-1. Whole-exome sequencing revealed a novel deletion variation in exons 5 to 8 of the P4HB gene, which was found to be heterozygous. PMID: 30063094 - Porntaveetus et al 2018 - 1 case. First Asian CCS patient possessing the recurrent mutation in P4HB (c.1178A>G ). |
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| Skeletal dysplasia v1.153 | P4HB |
Eleanor Williams Added phenotypes Cole-Carpenter syndrome 1 112240 for gene: P4HB Publications for gene P4HB were changed from 25683117 to 29384951; 30063094; 25683117 |
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| Skeletal dysplasia v1.147 | P4HB | Tracy Lester reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 25683117, 29384951, 30063094; Phenotypes: Cole-Carpenter syndrome 1 112240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | P4HB | Eleanor Williams reviewed gene: P4HB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | P4HB | Eleanor Williams Source NHS GMS was added to P4HB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||