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| Vascular Malformations_Germline v0.113 | KRIT1 | Zornitza Stark Tag founder tag was added to gene: KRIT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.113 | KRIT1 |
Zornitza Stark changed review comment from: Mutations in KRIT1 are predominantly nonsense or frameshift mutations resulting in premature stop codons (PMID: 29593473). Incomplete penetrance observed in inherited CCM (PMID: 16571644; OMIM) American-Hispanic founder mutation: c.1363C>T, p.Gln455*/Q248* (OMIM). Sardinian founder mutation: C329X (OMIM); to: American-Hispanic founder mutation: c.1363C>T, p.Gln455*/Q248* (OMIM). Sardinian founder mutation: C329X (OMIM) |
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| Vascular Malformations_Germline v0.113 | KRIT1 |
Zornitza Stark changed review comment from: Mutations in KRIT1 are predominantly nonsense or frameshift mutations resulting in premature stop codons (PMID: 29593473). Incomplete penetrance observed in inherited CCM (PMID: 16571644; OMIM); to: Mutations in KRIT1 are predominantly nonsense or frameshift mutations resulting in premature stop codons (PMID: 29593473). Incomplete penetrance observed in inherited CCM (PMID: 16571644; OMIM) American-Hispanic founder mutation: c.1363C>T, p.Gln455*/Q248* (OMIM). Sardinian founder mutation: C329X (OMIM) |
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| Vascular Malformations_Germline v0.61 | KRIT1 | Zornitza Stark Marked gene: KRIT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.61 | KRIT1 | Zornitza Stark Gene: krit1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.61 | KRIT1 | Zornitza Stark Publications for gene: KRIT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.60 | KRIT1 | Ee Ming Wong reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29593473, PMID: 16571644; Phenotypes: 1. Cavernous malformations of CNS and retina, 116860, AD, 2. Cerebral cavernous malformations-1, 116860, AD, 3. Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860, AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Germline v0.0 | KRIT1 |
Bryony Thompson gene: KRIT1 was added gene: KRIT1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 116860; Cavernous malformations of CNS and retina 116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860 |
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