| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Lysosomal storage disorder v1.68 | CLN8 | Sarah Leigh Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391 to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.11 | CLN8 | Sarah Leigh Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003 to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | CLN8 | Emma Ashton reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | CLN8 | Carol Hardy reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 8 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.2 | CLN8 |
Ivone Leong gene: CLN8 was added gene: CLN8 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003 |
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