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| Leukodystrophy - paediatric v0.222 | CLDN11 | Zornitza Stark Phenotypes for gene: CLDN11 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy-22, MIM#619328 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.221 | CLDN11 | Zornitza Stark reviewed gene: CLDN11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomyelinating leukodystrophy-22, MIM#619328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.216 | CLDN11 | Alison Yeung Marked gene: CLDN11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.216 | CLDN11 | Alison Yeung Gene: cldn11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.216 | CLDN11 | Alison Yeung Classified gene: CLDN11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.216 | CLDN11 | Alison Yeung Gene: cldn11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.215 | CLDN11 |
Melanie Marty gene: CLDN11 was added gene: CLDN11 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: CLDN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLDN11 were set to 33313762 Phenotypes for gene: CLDN11 were set to Hypomyelinating leukodystrophy Review for gene: CLDN11 was set to GREEN Added comment: In three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia, 2 different heterozygous de novo stop-loss variants were identified. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein. Sources: Literature |
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