Activity
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| Bardet Biedl syndrome v2.17 | IFT57 | Ida Ertmanska commented on gene: IFT57: Comment on list classification: There are two unrelated families reported in literature with biallelic IFT57 variants: one individual reported with a diagnosis of Bardet Biedl syndrome, and one family with oral-facial-digital syndrome with skeletal dysplasia and brachymesophalangia. Both publications demonstrate that the IFT57 variants result in ciliary defects. However, only one individual has features consistent with Bardet Biedl syndrome. Hence, this gene can only be rated Amber on this panel, given the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.17 | IFT57 | Ida Ertmanska edited their review of gene: IFT57: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.17 | IFT57 | Ida Ertmanska Tag Q2_26_promote_green was removed from gene: IFT57. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.17 | IFT57 | Ida Ertmanska Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.17 | IFT57 |
Ida Ertmanska changed review comment from: PMID: 27060890 Thevenon et al., 2016 3 sibs aged 17-25 years, from a consanguineous family, with oral-facial-digital syndrome with skeletal dysplasia and brachymesophalangia. No visual complaints, retinopathy no excluded in the study. All homozygous for IFT57 p.Lys259Lys. It is rare in gnomAD v4., no homozygotes reported. Variant leads to exon skipping, decrease in mRNA stability. Both anterograde ciliary transport and sonic hedgehog signaling were significantly decreased in subjects’ fibroblasts compared to controls.; to: PMID: 27060890 Thevenon et al., 2016 3 sibs aged 17-25 years, from a consanguineous family, with oral-facial-digital syndrome with skeletal dysplasia and brachymesophalangia. No visual complaints, retinopathy not excluded in the study. All homozygous for IFT57 p.Lys259Lys. It is rare in gnomAD v4., no homozygotes reported. Variant leads to exon skipping, decrease in mRNA stability. Both anterograde ciliary transport and sonic hedgehog signaling were significantly decreased in subjects’ fibroblasts compared to controls. |
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| Bardet Biedl syndrome v2.16 | IFT57 |
Ida Ertmanska changed review comment from: PMID: 27060890 Thevenon et al., 2016 3 sibs (consanguineous family) with oral-facial-digital syndrome with skeletal dysplasia and brachymesophalangia. All homozygous for IFT57 p.Lys259Lys. It is rare in gnomAD v4., no homozygotes reported. Variant leads to exon skipping, decrease in mRNA stability. Both anterograde ciliary transport and sonic hedgehog signaling were significantly decreased in subjects’ fibroblasts compared to controls.; to: PMID: 27060890 Thevenon et al., 2016 3 sibs aged 17-25 years, from a consanguineous family, with oral-facial-digital syndrome with skeletal dysplasia and brachymesophalangia. No visual complaints, retinopathy no excluded in the study. All homozygous for IFT57 p.Lys259Lys. It is rare in gnomAD v4., no homozygotes reported. Variant leads to exon skipping, decrease in mRNA stability. Both anterograde ciliary transport and sonic hedgehog signaling were significantly decreased in subjects’ fibroblasts compared to controls. |
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| Bardet Biedl syndrome v2.16 | IFT57 |
Ida Ertmanska changed review comment from: PMID: 27060890 Thevenon et al., 2016 3 sibs (consanguineous family) with oral-facial-digital syndrome with skeletal dysplasia and brachymesophalangia. All homozygous for IFT57 p.Lys259Lys - leads to exon skipping, decrease in mRNA stability. Both anterograde ciliary transport and sonic hedgehog signaling were significantly decreased in subjects’ fibroblasts compared to controls.; to: PMID: 27060890 Thevenon et al., 2016 3 sibs (consanguineous family) with oral-facial-digital syndrome with skeletal dysplasia and brachymesophalangia. All homozygous for IFT57 p.Lys259Lys. It is rare in gnomAD v4., no homozygotes reported. Variant leads to exon skipping, decrease in mRNA stability. Both anterograde ciliary transport and sonic hedgehog signaling were significantly decreased in subjects’ fibroblasts compared to controls. |
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| Bardet Biedl syndrome v2.16 | IFT57 | Ida Ertmanska Phenotypes for gene: IFT57 were changed from Bardet-Biedl syndrome, MONDO:0015229 to Bardet-Biedl syndrome, MONDO:0015229; ?Orofaciodigital syndrome XVIII, OMIM:617927 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.15 | IFT57 | Ida Ertmanska Publications for gene: IFT57 were set to 40273360 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.14 | IFT57 | Ida Ertmanska Classified gene: IFT57 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.14 | IFT57 | Ida Ertmanska Added comment: Comment on list classification: As there are 2 unrelated families with ciliopathy reported in literature, together with supportive functional evidence, this gene should now be promoted to Green on Bardet Biedl syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.14 | IFT57 | Ida Ertmanska Gene: ift57 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.13 | IFT57 | Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: IFT57. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.13 | IFT57 | Ida Ertmanska reviewed gene: IFT57: Rating: GREEN; Mode of pathogenicity: None; Publications: 27060890; Phenotypes: ?Orofaciodigital syndrome XVIII, OMIM:617927; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.7 | IFT57 | Achchuthan Shanmugasundram Classified gene: IFT57 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.7 | IFT57 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As there is one patient and functional evidence reported, IFT57 should be rated amber with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.7 | IFT57 | Achchuthan Shanmugasundram Gene: ift57 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.6 | IFT57 | Achchuthan Shanmugasundram Phenotypes for gene: IFT57 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome, MONDO:0015229 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.5 | IFT57 | Achchuthan Shanmugasundram Publications for gene: IFT57 were set to PMID: 40273360 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.4 | IFT57 | Achchuthan Shanmugasundram reviewed gene: IFT57: Rating: AMBER; Mode of pathogenicity: None; Publications: 40273360; Phenotypes: Bardet-Biedl syndrome, MONDO:0015229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.4 | IFT57 |
Krista Bukele gene: IFT57 was added gene: IFT57 was added to Bardet Biedl syndrome. Sources: Literature Mode of inheritance for gene: IFT57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT57 were set to PMID: 40273360 Phenotypes for gene: IFT57 were set to Bardet-Biedl syndrome Penetrance for gene: IFT57 were set to unknown Review for gene: IFT57 was set to AMBER Added comment: PMID: 40273360 described one case with Bardet-Biedl syndrome and biallelic variant in IFT57 with some functional evidence. Sources: Literature |
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