| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v1.344 | BBIP1 | Zornitza Stark Marked gene: BBIP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.344 | BBIP1 | Zornitza Stark Gene: bbip1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.344 | BBIP1 | Zornitza Stark Classified gene: BBIP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.344 | BBIP1 | Zornitza Stark Gene: bbip1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.343 | BBIP1 |
Zornitza Stark gene: BBIP1 was added gene: BBIP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBIP1 were set to 24026985; 32055034; 37239474 Phenotypes for gene: BBIP1 were set to Bardet-Biedl syndrome 18, MIM#615995 Review for gene: BBIP1 was set to GREEN Added comment: PMID: 24026985 - Single patient with BBS described with bi-allelic variants in this gene. PMID: 32055034 - An additional patient with classic BBS with a homozygous splice variant confirmed by RT-PCR to result in NMD PMID 37239474: third family with homozygous LoF variant Sources: Literature |
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