| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Joubert syndrome and other neurological ciliopathies v1.27 | TOPORS | Zornitza Stark Phenotypes for gene: TOPORS were changed from Joubert syndrome, MONDO:0018772, TOPORS-related to Joubert syndrome, MONDO:0018772, TOPORS-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.26 | TOPORS | Zornitza Stark Marked gene: TOPORS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.26 | TOPORS | Zornitza Stark Gene: topors has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.26 | TOPORS | Zornitza Stark Tag founder tag was added to gene: TOPORS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.26 | TOPORS | Zornitza Stark Phenotypes for gene: TOPORS were changed from macrocephaly; hypertelorism; down-slanting palpebral fissures; ptosis; polydactyly; respiratory failure; severe developmental delay to Joubert syndrome, MONDO:0018772, TOPORS-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.25 | TOPORS | Zornitza Stark Classified gene: TOPORS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.25 | TOPORS | Zornitza Stark Gene: topors has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.24 | TOPORS |
Hazel Phillimore changed review comment from: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416. Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome. Regions of homozygosity found in these three probands. Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). Sources: Literature; to: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416. Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome. Regions of homozygosity on chromosome 9 that includes the TOPORS gene was found in these three probands. Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). Sources: Literature |
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| Joubert syndrome and other neurological ciliopathies v1.24 | TOPORS |
Hazel Phillimore changed review comment from: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416. Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome. Regions of homozygosity found in these three probands. Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). Sources: Literature; to: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416. Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome. Regions of homozygosity found in these three probands. Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). Sources: Literature |
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| Joubert syndrome and other neurological ciliopathies v1.24 | TOPORS |
Hazel Phillimore changed review comment from: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416. Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome. Regions of homozygosity found in these three probands. Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes ) ) homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). Sources: Literature; to: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416. Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome. Regions of homozygosity found in these three probands. Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). Sources: Literature |
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| Joubert syndrome and other neurological ciliopathies v1.24 | TOPORS |
Hazel Phillimore changed review comment from: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416. Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome. Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. Regions of homozygosity found in these three probands. Sources: Literature; to: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416. Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome. Regions of homozygosity found in these three probands. Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes ) ) homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). Sources: Literature |
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| Joubert syndrome and other neurological ciliopathies v1.24 | TOPORS |
Hazel Phillimore gene: TOPORS was added gene: TOPORS was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature Mode of inheritance for gene: TOPORS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOPORS were set to PMID: 37227088; 34132027 Phenotypes for gene: TOPORS were set to macrocephaly; hypertelorism; down-slanting palpebral fissures; ptosis; polydactyly; respiratory failure; severe developmental delay Review for gene: TOPORS was set to AMBER Added comment: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416. Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome. Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. Regions of homozygosity found in these three probands. Sources: Literature |
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