Neuronal ceroid lipofuscinosis
Gene: CLN8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
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
Phenotypes for gene: CLN8 were changed from 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
gene: CLN8 was added gene: CLN8 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal