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| Fetal anomalies v0.199 | TTN | Rebecca Foulger Classified gene: TTN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.199 | TTN |
Rebecca Foulger Added comment: Comment on list classification: Rated as Green following confirmation from Anna de Burca as the following papers demonstrate a fetal relevance: In PMID:29575618, six of the affecteds were diagnosed prenatally by fetal ultrasound. In PMID:28040389 a fetal ultrasound reported Clubfoot. In PMID:29691892 all 30 patients had prenatal or early onset hypotonia and/or congenital contractures. The authors state that: to date, 16 patients from 12 families with a recessive prenatal or infant onset form of titinopathy have been reported. |
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| Fetal anomalies v0.199 | TTN | Rebecca Foulger Gene: ttn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.198 | TTN |
Rebecca Foulger gene: TTN was added gene: TTN was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 29575618; 28040389; 29691892 Phenotypes for gene: TTN were set to congenital titinopathy with arthrogryposis Review for gene: TTN was set to GREEN Added comment: TTN was reviewed on the DDG2P panel by Lucy Raymond with the comment: Biallelic LOF are congenital titinopathy with arthrogryposis and thus should be included. Rated 'possble' in DD-G2P for 'CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY' but there are sufficient published cases of congenital titinopathies (with or without a cardiac component) for a Green rating. Therefore have added TTN to the Fetal anomalies panel as a Green gene following confirmation by Anna de Burca. Sources: Expert Review |
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| Fetal anomalies v0.198 | TTN |
Rebecca Foulger gene: TTN was added gene: TTN was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 29575618; 28040389; 29691892 Phenotypes for gene: TTN were set to congenital titinopathy with arthrogryposis Review for gene: TTN was set to GREEN Added comment: TTN was reviewed on the DDG2P panel by Lucy Raymond with the comment: Biallelic LOF are congenital titinopathy with arthrogryposis and thus should be included. Rated 'possble' in DD-G2P for 'CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY' but there are sufficient published cases of congenital titinopathies (with or without a cardiac component) for a Green rating. Therefore have added TTN to the Fetal anomalies panel as a Green gene following confirmation by Anna de Burca. Sources: Expert Review |
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| Fetal anomalies v0.134 | RTTN | Rebecca Foulger edited their review of gene: RTTN: 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 | RTTN | Rebecca Foulger commented on gene: RTTN: DDG2P rating in original PAGE list: Confirmed for BILATERAL DIFFUSE POLYMICROGYRIA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | RTTN | Rebecca Foulger reviewed gene: RTTN: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | RTTN |
Rebecca Foulger gene: RTTN was added gene: RTTN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RTTN were set to BILATERAL DIFFUSE POLYMICROGYRIA |
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