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| Bardet Biedl syndrome v0.27 | BBIP1 | Zornitza Stark Publications for gene: BBIP1 were set to 24026985 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v0.26 | BBIP1 | Elena Savva reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24026985, 32055034; Phenotypes: Bardet-Biedl Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v0.9 | BBIP1 | Zornitza Stark Marked gene: BBIP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v0.9 | BBIP1 | Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v0.9 | BBIP1 | Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v0.9 | BBIP1 | Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v0.8 | BBIP1 |
Zornitza Stark gene: BBIP1 was added gene: BBIP1 was added to Bardet Biedl syndrome_VCGS. Sources: Expert list Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBIP1 were set to 24026985 Phenotypes for gene: BBIP1 were set to Bardet-Biedl syndrome 18, MIM#615995 Review for gene: BBIP1 was set to AMBER Added comment: Single patient described with bi-allelic variants in this gene. Only one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided. Sources: Expert list |
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