Activity
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6 actions
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| Additional findings_Paediatric v0.69 | KRIT1 | Zornitza Stark Marked gene: KRIT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.69 | KRIT1 | Zornitza Stark Added comment: Comment when marking as ready: Agree, potentially actionable in childhood. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.69 | KRIT1 | Zornitza Stark Gene: krit1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.69 | KRIT1 | Zornitza Stark Classified gene: KRIT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.69 | KRIT1 | Zornitza Stark Gene: krit1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.47 | KRIT1 |
Lilian Downie gene: KRIT1 was added gene: KRIT1 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRIT1 were set to PMID: 30061145, 20301470, 27561926 Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 MIM# 116860 Review for gene: KRIT1 was set to AMBER Added comment: Not evaluated by Babyseq, included in NC NEXUS list. Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous system. Complications of rupture/bleeding can cause seizures, stroke, neurological deficits. Screening and management is available. Rare but can be paediatric onset: see PMID's. Sources: Expert list |
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