| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe early-onset obesity v0.57 | LZTFL1 | Zornitza Stark Marked gene: LZTFL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.57 | LZTFL1 | Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.57 | LZTFL1 | Zornitza Stark Classified gene: LZTFL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.57 | LZTFL1 | Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.56 | LZTFL1 |
Zornitza Stark gene: LZTFL1 was added gene: LZTFL1 was added to Severe early-onset obesity. Sources: Expert list Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LZTFL1 were set to 22510444; 23692385; 27312011; 22072986 Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17 (MIM#615994) Review for gene: LZTFL1 was set to GREEN Added comment: 3 variants reported in 2 unrelated families, with supporting functional studies. Borderline amber/green PMID: 22510444; Marion 2012: Hom variant reported in BBS family, presenting with situs invertus. Supporting functional studies performed. Variant not present in gnomad PMID: 23692385; Schaefer 2014: Compound heterozygous variants reported in twins with BBS, with supporting functional studies. Situs invertus not reported. Variants not in gnomAD at unexpected frquencies. PMID: 27312011; Jiang 2016: Knockout mice model showed retinal defects and differences in weight compared to wild-type mice. PMID: 22072986; Seo 2011: LZTFL1 interacts with BBS protein complex and is an important regulator of BBSome ciliary trafficking Sources: Expert list |
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