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| Heterotaxy v0.106 | LZTFL1 | Zornitza Stark Marked gene: LZTFL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.106 | LZTFL1 | Zornitza Stark Gene: lztfl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.106 | LZTFL1 | Zornitza Stark Classified gene: LZTFL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.106 | LZTFL1 | Zornitza Stark Gene: lztfl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.103 | LZTFL1 |
Crystle Lee gene: LZTFL1 was added gene: LZTFL1 was added to Heterotaxy. Sources: Expert Review 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 AMBER Added comment: Only 1 family of the 2 currently reported presented with situs invertus 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 Review |
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