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| Mendeliome v2.0 | CAPNS1 | Gene migrated from ENSG00000126247 to ENSG00000126247 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1645 | CAPNS1 | Zornitza Stark Marked gene: CAPNS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1645 | CAPNS1 | Zornitza Stark Gene: capns1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1645 | CAPNS1 | Zornitza Stark Classified gene: CAPNS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1645 | CAPNS1 | Zornitza Stark Gene: capns1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1644 | CAPNS1 |
Zornitza Stark gene: CAPNS1 was added gene: CAPNS1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: CAPNS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPNS1 were set to 38230350 Phenotypes for gene: CAPNS1 were set to Hereditary pulmonary arterial hypertension MONDO:0017148, CAPNS1-related Review for gene: CAPNS1 was set to AMBER Added comment: Three individuals from two families reported with homozygous splice site variants. Sources: Expert list |
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