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| Renal ciliopathies v1.7 | SCLT1 | Catherine Snow Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.7 | SCLT1 | Catherine Snow Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.7 | SCLT1 | Catherine Snow Classified gene: SCLT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.7 | SCLT1 |
Catherine Snow Added comment: Comment on list classification: PMID: 30425282 reports on individual who had compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) the patient was identified has having a form of ciliopathies that exhibits clinical features of Senior Løken syndrome. SLS is a syndromic form of retinal dystrophy associated with nephronophthisis. PMID: 24285566 - Reported on a patient with a severe ciliopathy phenotype. A homozygous splice site mutation in the SCLT1 gene was detected, Adly et al. (2014) considered the severe ciliopathy phenotype of their patients to best fit oral–facial–digital syndrome (OFD) type IX in view of the prominent eye involvement no kidney involvement reported PMID: 32055034 report on SCLT1 related to Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadisma though clinical details on the individual are not provided PMID: 28486600 - Li et al 2017 - report a mouse model with mutated Sclt1 gene. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly. Rating gene as Amber as evidence of renal cillopathy phenotype is still limited. |
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| Renal ciliopathies v1.7 | SCLT1 | Catherine Snow Gene: sclt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.6 | SCLT1 | Catherine Snow Classified gene: SCLT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.6 | SCLT1 |
Catherine Snow Added comment: Comment on list classification: PMID: 30425282 reports on individual who had compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) the patient was identified has having a form of ciliopathies that exhibits clinical features of Senior Løken syndrome. SLS is a syndromic form of retinal dystrophy associated with nephronophthisis. PMID: 24285566 - Reported on a patient with a severe ciliopathy phenotype. A homozygous splice site mutation in the SCLT1 gene was detected, Adly et al. (2014) considered the severe ciliopathy phenotype of their patients to best fit oral–facial–digital syndrome (OFD) type IX in view of the prominent eye involvement no kidney involvement reported PMID: 32055034 report on SCLT1 related to Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadisma though clinical details on the individual are not provided PMID: 28486600 - Li et al 2017 - report a mouse model with mutated Sclt1 gene. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly. Rating gene as Amber as evidence of renal cillopathy phenotype is still limited. |
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| Renal ciliopathies v1.6 | SCLT1 | Catherine Snow Gene: sclt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.6 | SCLT1 | Catherine Snow Classified gene: SCLT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.6 | SCLT1 |
Catherine Snow Added comment: Comment on list classification: PMID: 30425282 reports on individual who had compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) the patient was identified has having a form of ciliopathies that exhibits clinical features of Senior Løken syndrome. SLS is a syndromic form of retinal dystrophy associated with nephronophthisis. PMID: 24285566 - Reported on a patient with a severe ciliopathy phenotype. A homozygous splice site mutation in the SCLT1 gene was detected, Adly et al. (2014) considered the severe ciliopathy phenotype of their patients to best fit oral–facial–digital syndrome (OFD) type IX in view of the prominent eye involvement no kidney involvement reported PMID: 32055034 report on SCLT1 related to Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadisma though clinical details on the individual are not provided PMID: 28486600 - Li et al 2017 - report a mouse model with mutated Sclt1 gene. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly. Rating gene as Amber as evidence of renal cillopathy phenotype is still limited |
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| Renal ciliopathies v1.6 | SCLT1 | Catherine Snow Gene: sclt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.0 | SCLT1 |
Zornitza Stark gene: SCLT1 was added gene: SCLT1 was added to Renal ciliopathies. Sources: Expert list Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCLT1 were set to 28486600; 30425282; 30237576; 28005958; 24285566 Phenotypes for gene: SCLT1 were set to Orofaciodigital syndrome type IX; Senior-Loken syndrome Review for gene: SCLT1 was set to AMBER Added comment: Emerging ciliopathy gene, at least one report of renal involvement; mouse model recapitulates phenotype. Sources: Expert list |
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