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| Fetal anomalies v0.144 | GJA1 | Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, mode of inheritance listed as biallelic for 'HALLERMANN-STREIFF SYNDROME' and 'AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA', and listed as monoallelic for 'HYPOPLASTIC LEFT HEART SYNDROME' and 'AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA'. Clinical review confirmed that GJA1 should be on the panel with both monoallelic and biallelic inheritance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.144 | GJA1 | Rebecca Foulger Mode of inheritance for gene: GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | GJA1 | Rebecca Foulger edited their review of gene: GJA1: 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 Green. Additional notes from clinical review: Include with monoallelic (Atrioventricular septal defects) and biallelic (Hypoplastic left heart syndrome 1) inheritance.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GJA1 | Rebecca Foulger commented on gene: GJA1: DDG2P rating in original PAGE list: Confirmed for HALLERMANN-STREIFF SYNDROME, Confirmed for HYPOPLASTIC LEFT HEART SYNDROME, Confirmed for AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, and Confirmed for AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | GJA1 | Rebecca Foulger reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | GJA1 | Rebecca Foulger Added phenotypes AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA for gene: GJA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | GJA1 | Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA for gene: GJA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | GJA1 | Rebecca Foulger Added phenotypes HYPOPLASTIC LEFT HEART SYNDROME for gene: GJA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | GJA1 |
Rebecca Foulger gene: GJA1 was added gene: GJA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJA1 were set to HALLERMANN-STREIFF SYNDROME |
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