| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.4287 | RUNDC1 | Zornitza Stark Marked gene: RUNDC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4287 | RUNDC1 | Zornitza Stark Gene: rundc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4287 | RUNDC1 | Zornitza Stark Classified gene: RUNDC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4287 | RUNDC1 | Zornitza Stark Gene: rundc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4286 | RUNDC1 | Zornitza Stark reviewed gene: RUNDC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4274 | RUNDC1 |
Lilian Downie gene: RUNDC1 was added gene: RUNDC1 was added to Mendeliome. Sources: Other Mode of inheritance for gene: RUNDC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RUNDC1 were set to Neurodevelopmental disorder with pituitary anomalies Review for gene: RUNDC1 was set to AMBER Added comment: Unpublished, cohort from GeneMatcher with biallelic variants in infants with panhypopit and dev delay. Dr. Adam Jackson and Dr. Siddharth Banka (Manchester putting cohort together) Sources: Other |
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