| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Heart Defect v0.305 | RERE | Zornitza Stark Marked gene: RERE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.305 | RERE | Zornitza Stark Gene: rere has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.305 | RERE | Zornitza Stark Publications for gene: RERE were set to 29330883, 27087320, 33772547, 36053530 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.304 | RERE | Zornitza Stark Classified gene: RERE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.304 | RERE | Zornitza Stark Gene: rere has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.303 | RERE |
Julia Broadbent gene: RERE was added gene: RERE was added to Congenital Heart Defect. Sources: Literature,ClinGen Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RERE were set to 29330883, 27087320, 33772547, 36053530 Phenotypes for gene: RERE were set to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (OMIM #616975) Penetrance for gene: RERE were set to Complete Review for gene: RERE was set to GREEN Added comment: Niehaus, Kim & Manning (2022) (PMID: 36053530) provide an updated literature review, and assert 23 cases have been reported of Neurodevelopmental Disorders with or without Anomalies of the Brain, Eye, or Heart (NEDBEH) caused by heterozygous pathogenic variants in RERE. Eleven of the 23 patients reported (48%) had congenital heart disease, most commonly septal disease. All variants were de novo except one, inherited from a mother with mild symptoms. Variant types include missense, frameshift, small deletions & duplications and 1 large deletion. Missense variants in the atrophin-1 domain seem to present with a more severe phenotype than loss-of-function variants NEDBEH is fully penetrant but has variable expressivity – congenital heart anomalies not always present. ClinGen: definitive association with AD complex neurodevelopmental disorder with or without congenital anomalies. Sources: Literature, ClinGen |
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