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| Prepair 1000+ v1.823 | CLDN19 | Zornitza Stark Marked gene: CLDN19 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.823 | CLDN19 | Zornitza Stark Gene: cldn19 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.823 | CLDN19 | Zornitza Stark Phenotypes for gene: CLDN19 were changed from Hypomagnesemia 5, renal, with ocular involvement, 248190 (3) to Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.822 | CLDN19 | Zornitza Stark Publications for gene: CLDN19 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.761 | CLDN19 |
Karina Sandoval changed review comment from: Dental anomalies on the AI spectrum are a feature of this primarily renal disorder. Macular coloboma is part of the phenotype. Variable age of onset of deafness, progressive, generally in the first decade. PMID 27530400 - 9 indiv from 6 families, age at onset of symtpoms ranging from 0-9 years with varying severity of symptoms ranging frrom FTT to polydipsia. Oldest age at CKD diagnosis was 15 years. PMID 17033971 - 12 patients affected with hypomagnesemia, renal failure, and severe ocular abnormalities. Age at onset of symptoms was 0-8 years. PMID 22422540 - 23 indiv with familial hypomagnesemia with hypercalciuria and nephrocalcinosis, median age at onset 9.5years. CKD was more frequently observed in patients with CLDN19 mutations: survival without CKD or ESRD was 56% at 20 years of age; to: Dental anomalies on the AI spectrum are a feature of this primarily renal disorder. Macular coloboma is part of the phenotype. Variable age of onset of deafness, progressive, generally in the first decade. PMID 27530400 - 9 indiv from 6 families, age at onset of symtpoms ranging from 0-9 years with varying severity of symptoms ranging frrom FTT to polydipsia. Oldest age at CKD diagnosis was 15 years. PMID 17033971 - 12 patients affected with hypomagnesemia, renal failure, and severe ocular abnormalities. Age at onset of symptoms was 0-8 years. PMID 22422540 - 23 indiv with familial hypomagnesemia with hypercalciuria and nephrocalcinosis, median age at onset 9.5years. CKD was more frequently observed in patients with CLDN19 mutations: survival without CKD or ESRD was 56% at 20 years of age |
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| Prepair 1000+ v1.730 | CLDN19 | Karina Sandoval reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: None; Publications: 27530400, 17033971, 22422540; Phenotypes: Hypomagnesemia 5, renal, with ocular involvement, MIM#248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.395 | CLDN10 | Zornitza Stark Marked gene: CLDN10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.395 | CLDN10 | Zornitza Stark Gene: cldn10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.395 | CLDN10 | Zornitza Stark Phenotypes for gene: CLDN10 were changed from HELIX syndrome, 617671 (3), Autosomal recessive to HELIX syndrome, MIM#617671 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.394 | CLDN10 | Zornitza Stark Publications for gene: CLDN10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.393 | CLDN10 | Zornitza Stark reviewed gene: CLDN10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38927623; Phenotypes: HELIX syndrome, MIM#617671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.390 | CLDN10 | Crystle Lee reviewed gene: CLDN10: Rating: AMBER; Mode of pathogenicity: None; Publications: 37984702, 31671507, 28674042; Phenotypes: HELIX syndrome (MIM#617671); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.77 | CLDN1 | Lilian Downie Marked gene: CLDN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.77 | CLDN1 | Lilian Downie Gene: cldn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.77 | CLDN1 | Lilian Downie Publications for gene: CLDN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.65 | CLDN1 | Andrew Coventry reviewed gene: CLDN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11889141 12164927 35304779 36779798; Phenotypes: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | CLDN19 |
Zornitza Stark gene: CLDN19 was added gene: CLDN19 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement, 248190 (3) |
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| Prepair 1000+ v0.0 | CLDN10 |
Zornitza Stark gene: CLDN10 was added gene: CLDN10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CLDN10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN10 were set to HELIX syndrome, 617671 (3), Autosomal recessive |
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| Prepair 1000+ v0.0 | CLDN1 |
Zornitza Stark gene: CLDN1 was added gene: CLDN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3) |
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