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| Likely inborn error of metabolism - targeted testing not possible v2.106 | CLN5 | Sarah Leigh Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5, 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | CLN5 |
Ivone Leong Source NHS GMS was added to CLN5. Source London North GLH was added to CLN5. |
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| Likely inborn error of metabolism - targeted testing not possible v1.26 | CLN5 | Louise Daugherty Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5, 256731 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | CLN5 |
Ellen McDonagh gene: CLN5 was added gene: CLN5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal |
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