PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
24 actions
Mendeliome v2.0 RIT1 Gene migrated from ENSG00000143622 to ENSG00000143622 (gene set migration)
Mendeliome v0.4859 KRIT1 Zornitza Stark Tag founder tag was added to gene: KRIT1.
Mendeliome v0.4859 KRIT1 Zornitza Stark Marked gene: KRIT1 as ready
Mendeliome v0.4859 KRIT1 Zornitza Stark Gene: krit1 has been classified as Green List (High Evidence).
Mendeliome v0.4859 KRIT1 Zornitza Stark Phenotypes for gene: KRIT1 were changed from to Cavernous malformations of CNS and retina, 116860; Cerebral cavernous malformations-1, 116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860
Mendeliome v0.4858 KRIT1 Zornitza Stark Publications for gene: KRIT1 were set to
Mendeliome v0.4857 KRIT1 Zornitza Stark Mode of inheritance for gene: KRIT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4849 KRIT1 Elena Savva reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16571644, 29593473; Phenotypes: Cavernous malformations of CNS and retina, 116860, Cerebral cavernous malformations-1, 116860, Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.4351 RIT1 Zornitza Stark Marked gene: RIT1 as ready
Mendeliome v0.4351 RIT1 Zornitza Stark Gene: rit1 has been classified as Green List (High Evidence).
Mendeliome v0.4351 RIT1 Zornitza Stark Phenotypes for gene: RIT1 were changed from to Noonan syndrome 8, MIM# 615355
Mendeliome v0.4350 RIT1 Zornitza Stark Publications for gene: RIT1 were set to
Mendeliome v0.4349 RIT1 Zornitza Stark Mode of pathogenicity for gene: RIT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.4348 RIT1 Zornitza Stark Mode of inheritance for gene: RIT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4347 RIT1 Zornitza Stark reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23791108, 25124994, 24939608, 27101134; Phenotypes: Noonan syndrome 8, MIM# 615355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4131 TRIT1 Zornitza Stark Marked gene: TRIT1 as ready
Mendeliome v0.4131 TRIT1 Zornitza Stark Gene: trit1 has been classified as Green List (High Evidence).
Mendeliome v0.4131 TRIT1 Zornitza Stark Phenotypes for gene: TRIT1 were changed from to Combined oxidative phosphorylation deficiency 35, MIM#617873
Mendeliome v0.4130 TRIT1 Zornitza Stark Publications for gene: TRIT1 were set to
Mendeliome v0.4129 TRIT1 Zornitza Stark Mode of inheritance for gene: TRIT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4128 TRIT1 Zornitza Stark reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32088416, 24901367, 28185376, 30977854; Phenotypes: Combined oxidative phosphorylation deficiency 35, MIM#617873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 TRIT1 Zornitza Stark gene: TRIT1 was added
gene: TRIT1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIT1 was set to Unknown
Mendeliome v0.0 RIT1 Zornitza Stark gene: RIT1 was added
gene: RIT1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RIT1 was set to Unknown
Mendeliome v0.0 KRIT1 Zornitza Stark gene: KRIT1 was added
gene: KRIT1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRIT1 was set to Unknown