| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.2867 | COPZ1 | Zornitza Stark Marked gene: COPZ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2867 | COPZ1 | Zornitza Stark Gene: copz1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2867 | COPZ1 | Zornitza Stark Classified gene: COPZ1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2867 | COPZ1 | Zornitza Stark Gene: copz1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2866 | COPZ1 |
Zornitza Stark gene: COPZ1 was added gene: COPZ1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: COPZ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COPZ1 were set to 39642330 Phenotypes for gene: COPZ1 were set to Severe congenital neutropenia, autosomal recessive, MONDO:0028226, COPZ1-related Review for gene: COPZ1 was set to AMBER Added comment: 3 individuals from 2 unrelated families reported. A pair of siblings with homozygous LoF variant and a more severe phenotype, comprising other immune defects, neurological and skeletal features. An additional individual with homozygous missense variant and a milder phenotype of isolated neutropenia. Some supportive functional data. AMBER rating as only two families and homozygous variants. Sources: Literature |
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