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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 TRIT1 Louise Daugherty reviewed gene: TRIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 RIT1 Louise Daugherty reviewed gene: RIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 TRIT1 Louise Daugherty Publications for gene TRIT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RIT1 Louise Daugherty Publications for gene RIT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 KRIT1 Louise Daugherty Publications for gene KRIT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RIT1 Louise Daugherty Mode of inheritance for gene RIT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.10 TRIT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 35, 617873 for gene: TRIT1
Severe Paediatric Disorders v0.10 RIT1 Louise Daugherty Added phenotypes Noonan syndrome 8, 615355 for gene: RIT1
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 TRIT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 35, 617873 for gene: TRIT1
Severe Paediatric Disorders v0.9 RIT1 Louise Daugherty Added phenotypes Noonan syndrome 8, 615355 for gene: RIT1
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 TRIT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 35, 617873 for gene: TRIT1
Severe Paediatric Disorders v0.9 RIT1 Louise Daugherty Added phenotypes Noonan syndrome 8, 615355 for gene: RIT1
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 TRIT1 Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 35, 617873 for gene: TRIT1
Severe Paediatric Disorders v0.8 RIT1 Louise Daugherty Added phenotypes Noonan syndrome 8, 615355 for gene: RIT1
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 v0.8 TRIT1 Louise Daugherty Mode of inheritance for gene TRIT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 35, 617873 for gene: TRIT1
Severe Paediatric Disorders v0.7 TRIT1 Louise Daugherty Source Next Generation Children Project was added to TRIT1.
Severe Paediatric Disorders v0.7 RIT1 Louise Daugherty Source Next Generation Children Project was added to RIT1.
Severe Paediatric Disorders v0.7 KRIT1 Louise Daugherty Source Next Generation Children Project was added to KRIT1.
Severe Paediatric Disorders v0.5 TRIT1 Louise Daugherty Source Expert Review Green was added to TRIT1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 RIT1 Louise Daugherty Source Expert Review Green was added to RIT1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
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)
Severe Paediatric Disorders v0.4 TRIT1 Louise Daugherty gene: TRIT1 was added
gene: TRIT1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: TRIT1 was set to
Severe Paediatric Disorders v0.4 RIT1 Louise Daugherty gene: RIT1 was added
gene: RIT1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: RIT1 was set to
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