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| Intellectual disability syndromic and non-syndromic v0.3075 | PIBF1 | Zornitza Stark Phenotypes for gene: PIBF1 were changed from Joubert syndrome 33; OMIM #617767 to Joubert syndrome 33, OMIM #617767 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3074 | PIBF1 | Zornitza Stark Publications for gene: PIBF1 were set to PubMed: 26167768; 30858804; 29695797 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3073 | PIBF1 | Zornitza Stark reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33004012; Phenotypes: Joubert syndrome 33, OMIM #617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1325 | PIBF1 | Chirag Patel Marked gene: PIBF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1325 | PIBF1 | Chirag Patel Gene: pibf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1325 | PIBF1 | Chirag Patel Classified gene: PIBF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1325 | PIBF1 | Chirag Patel Gene: pibf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1324 | PIBF1 |
Chirag Patel gene: PIBF1 was added gene: PIBF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIBF1 were set to PubMed: 26167768; 30858804; 29695797 Phenotypes for gene: PIBF1 were set to Joubert syndrome 33; OMIM #617767 Review for gene: PIBF1 was set to GREEN Added comment: 1 family of Schmiedeleut Hutterite descent with 2 affected brothers with Joubert syndrome had homozygous missense mutation in PIBF1 gene. Parents were heterozygous. 2 other Hutterite families with 3 affected children and same homozygous missense mutation in PIBF1 gene, suggesting a founder effect. 2 other unrelated individuals with compound heterozygous mutations in PIBF1 gene. 1 unrelated individual with compound heterozygous variants in PIBF1 gene, and functional evidence in the frog Xenopus. 1 unrelated individual with another homozygous missense mutation in PIBF1 gene, but no and functional evidence. Sources: Literature |
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