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| Fetal anomalies v1.49 | ALG9 |
Rebecca Foulger changed review comment from: PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants. In addition to summarising the 3 patients from Tham et al (PMID:25966638) who died in utero , they report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had a homozygous variant in ALG9: p.Tyr287Cys.; to: PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants. In addition to summarising the 3 patients from Tham et al (PMID:25966638) who died in utero, they report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had a homozygous variant in ALG9: p.Tyr287Cys. |
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| Fetal anomalies v1.49 | ALG9 |
Rebecca Foulger commented on gene: ALG9: PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants. In addition to summarising the 3 patients from Tham et al (PMID:25966638) who died in utero , they report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had a homozygous variant in ALG9: p.Tyr287Cys. |
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| Fetal anomalies v0.165 | TYRP1 |
Rebecca Foulger Source Expert Review Red was added to TYRP1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.165 | TYR |
Rebecca Foulger Source Expert Review Red was added to TYR. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.161 | TYRP1 | Rebecca Foulger edited their review of gene: TYRP1: 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: Phenotype is not fetally-relevant. Action taken: Demoted TYRP1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.161 | TYR | Rebecca Foulger edited their review of gene: TYR: 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: Phenotype is not fetally-relevant. Action taken: Demoted TYR gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TYRP1 | Rebecca Foulger reviewed gene: TYRP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | TYR | Rebecca Foulger reviewed gene: TYR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HSD17B10 | Rebecca Foulger commented on gene: HSD17B10: DDG2P rating in original PAGE list: Confirmed for 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY and Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | HPD | Rebecca Foulger commented on gene: HPD: DDG2P rating in original PAGE list: Probable for HAWKINSINURIA and Probable for TYROSINEMIA TYPE 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | TYRP1 |
Rebecca Foulger gene: TYRP1 was added gene: TYRP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYRP1 were set to OCULOCUTANEOUS ALBINISM TYPE 3 |
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| Fetal anomalies v0.1 | TYR |
Rebecca Foulger gene: TYR was added gene: TYR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYR were set to OCULOCUTANEOUS ALBINISM TYPE 1 |
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| Fetal anomalies v0.1 | TAT |
Rebecca Foulger gene: TAT was added gene: TAT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAT were set to TYROSINEMIA TYPE 2 |
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| Fetal anomalies v0.1 | HSD17B10 |
Rebecca Foulger gene: HSD17B10 was added gene: HSD17B10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HSD17B10 were set to 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY |
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| Fetal anomalies v0.1 | HPD | Rebecca Foulger Added phenotypes TYROSINEMIA TYPE 3 for gene: HPD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FAH |
Rebecca Foulger gene: FAH was added gene: FAH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to TYROSINEMIA TYPE 1 |
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