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| Severe Paediatric Disorders v0.17 | KRIT1 | Louise Daugherty Mode of inheritance for gene KRIT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | KRIT1 | Louise Daugherty reviewed gene: KRIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | KRIT1 | Louise Daugherty Publications for gene KRIT1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | KRIT1 | Louise Daugherty Added phenotypes Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Cerebral cavernous malformations-1, 116860; Cavernous malformations of CNS and retina, 116860 for gene: KRIT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | KRIT1 | Louise Daugherty Added phenotypes Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Cerebral cavernous malformations-1, 116860; Cavernous malformations of CNS and retina, 116860 for gene: KRIT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | KRIT1 | Louise Daugherty Added phenotypes Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Cerebral cavernous malformations-1, 116860; Cavernous malformations of CNS and retina, 116860 for gene: KRIT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | KRIT1 | Louise Daugherty Added phenotypes Cerebral cavernous malformations-1, 116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Cavernous malformations of CNS and retina, 116860 for gene: KRIT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | KRIT1 | Louise Daugherty Source Next Generation Children Project was added to KRIT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | KRIT1 |
Louise Daugherty Source Expert Review Green was added to KRIT1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | KRIT1 |
Louise Daugherty gene: KRIT1 was added gene: KRIT1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: KRIT1 was set to |
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