Activity
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5 actions
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Central Hypoventilation v1.3 | LBX1 | Zornitza Stark Marked gene: LBX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Central Hypoventilation v1.3 | LBX1 | Zornitza Stark Gene: lbx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Central Hypoventilation v1.3 | LBX1 | Zornitza Stark Classified gene: LBX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Central Hypoventilation v1.3 | LBX1 | Zornitza Stark Gene: lbx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Central Hypoventilation v1.2 | LBX1 |
Zornitza Stark gene: LBX1 was added gene: LBX1 was added to Central Hypoventilation. Sources: Expert Review Mode of inheritance for gene: LBX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LBX1 were set to 30487221 Phenotypes for gene: LBX1 were set to Central hypoventilation syndrome, congenital, 3, MIM#619483 Review for gene: LBX1 was set to AMBER Added comment: Two siblings reported with homozygous LoF variant in this gene, supportive mouse model. Sources: Expert Review |