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| Fetal anomalies v0.309 | ALPL | Rebecca Foulger Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.309 | ALPL | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from BIALLELIC to 'BOTH monoallelic and biallelic' following advice by Anna de Burca (Genomics England clinical team). AD variant reported in Chandler et al (PMID:29595812) for Hypophosphatasia phenotype. OMIM lists AR inheritance for Hypophosphatasia, infantile/Hypophosphatasia, childhood. And AD/AR for Hypophosphatasia, adult and Odontohypophosphatasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.309 | ALPL | Rebecca Foulger Mode of inheritance for gene: ALPL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.308 | ALPL | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from BIALLELIC to 'BOTH monoallelic and biallelic' following advice by Anna de Burca (Genomics England clinical team). AD variant reported in Chandler et al (PMID:29595812) for Hypophosphatasia phenotype. OMIM lists AR inheritance for Hypophosphatasia, infantile/Hypophosphatasia, childhood. And AD/AR for Hypophosphatasia, adult and Odontohypophosphatasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.308 | ALPL | Rebecca Foulger Mode of inheritance for gene: ALPL was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.184 | ALPL | Rebecca Foulger edited their review of gene: ALPL: Added comment: Additional evidence from PMID:29595812:AD maternally inherited variant identified in ALPL from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | ALPL | Rebecca Foulger edited their review of gene: ALPL: Added comment: 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.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ALPL | Rebecca Foulger commented on gene: ALPL: DDG2P rating in original PAGE list: Confirmed for HYPOPHOSPHATASIA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | ALPL | Rebecca Foulger reviewed gene: ALPL: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ALPL |
Rebecca Foulger gene: ALPL was added gene: ALPL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALPL were set to HYPOPHOSPHATASIA |
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