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| Hereditary Neuropathy_CMT - isolated v1.64 | DHTKD1 |
Chirag Patel Source Royal Melbourne Hospital was removed from DHTKD1. Source Victorian Clinical Genetics Services was removed from DHTKD1. Source Literature was added to DHTKD1. Phenotypes for gene: DHTKD1 were changed from HMSN; Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750 to Charcot-Marie-Tooth disease axonal type 2Q MONDO:0014012 Publications for gene DHTKD1 were changed from 23141294, 29661920, 28902413 to 23141294, 29661920, 28902413 |
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| Hereditary Neuropathy_CMT - isolated v0.165 | DHTKD1 | Zornitza Stark changed review comment from: Comment on list classification: Two unrelated families and animal model.; to: Comment on list classification: Two unrelated families and animal model. Note bi-allelic variants are associated with a metabolic disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.165 | DHTKD1 | Zornitza Stark Mode of inheritance for gene: DHTKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.164 | DHTKD1 | Zornitza Stark Marked gene: DHTKD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.164 | DHTKD1 | Zornitza Stark Gene: dhtkd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.164 | DHTKD1 | Zornitza Stark Publications for gene: DHTKD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.0 | DHTKD1 |
Bryony Thompson gene: DHTKD1 was added gene: DHTKD1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: DHTKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DHTKD1 were set to HMSN; Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750 |
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