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| Amelogenesis imperfecta v0.12 | CNNM4 | Zornitza Stark Publications for gene: CNNM4 were set to 19200527; 19200525 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v0.11 | CNNM4 |
Zornitza Stark changed review comment from: Jalili syndrome is an autosomal recessive disorder consisting of cone-rod dystrophy and amelogenesis imperfecta. Significant visual impairment with nystagmus and photophobia is present from infancy or early childhood and progresses with age. Enamel of primary and secondary dentitions is grossly abnormal and prone to rapid posteruptive failure, in part reflecting hypomineralization. At least 8 unrelated families reported.; to: Jalili syndrome is an autosomal recessive disorder consisting of cone-rod dystrophy and amelogenesis imperfecta. Significant visual impairment with nystagmus and photophobia is present from infancy or early childhood and progresses with age. Enamel of primary and secondary dentitions is grossly abnormal and prone to rapid posteruptive failure, in part reflecting hypomineralization. >100 affected individuals reported. |
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| Amelogenesis imperfecta v0.11 | CNNM4 | Zornitza Stark edited their review of gene: CNNM4: Changed publications: 19200527, 19200525, 30705057 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v0.11 | CNNM4 | Zornitza Stark Marked gene: CNNM4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v0.11 | CNNM4 | Zornitza Stark Gene: cnnm4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v0.11 | CNNM4 | Zornitza Stark Phenotypes for gene: CNNM4 were changed from cone-rod dystrophy and amelogenesis imperfecta; Jalili syndrome, 217080 (includes amelogenesis imperfecta) to Jalili syndrome, MIM#217080; cone-rod dystrophy and amelogenesis imperfecta | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v0.10 | CNNM4 | Zornitza Stark Publications for gene: CNNM4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v0.9 | CNNM4 | Zornitza Stark reviewed gene: CNNM4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19200527, 19200525; Phenotypes: Jalili syndrome, MIM# 217080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v0.0 | CNNM4 |
Zornitza Stark gene: CNNM4 was added gene: CNNM4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CNNM4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNNM4 were set to cone-rod dystrophy and amelogenesis imperfecta; Jalili syndrome, 217080 (includes amelogenesis imperfecta) |
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