| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Neuropathy v2.63 | GLDN | Zornitza Stark Marked gene: GLDN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.63 | GLDN | Zornitza Stark Gene: gldn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.53 | GLDN | Sangavi Sivagnanasundram Classified gene: GLDN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.53 | GLDN | Sangavi Sivagnanasundram Gene: gldn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.52 | GLDN |
Sangavi Sivagnanasundram gene: GLDN was added gene: GLDN was added to Hereditary Neuropathy. Sources: Literature Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLDN were set to 35740734; 28726266; 27616481 Phenotypes for gene: GLDN were set to lethal congenital contracture syndrome 11, MONDO:0014965 Review for gene: GLDN was set to GREEN Added comment: Biallelic GLDN variants are associated with lethal congenital contracture syndrome 11 (LCCS11) – a severe arthrogryposis multiplex congenita with peripheral neuropathy, respiratory insufficiency and polyhydramnios. Neuropathy is a presenting feature of this condition. >4 unrelated families presented with neuropathy/ abnormal transmission electron microscopy findings Sources: Literature |
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