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| BabyScreen+ newborn screening v1.114 | CLN8 | Tommy Li Added phenotypes Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 for gene: CLN8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.309 | CLN8 | Zornitza Stark Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.308 | CLN8 | Zornitza Stark edited their review of gene: CLN8: Changed phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.308 | CLN8 | Zornitza Stark Marked gene: CLN8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.308 | CLN8 | Zornitza Stark Gene: cln8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.308 | CLN8 | Zornitza Stark Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.307 | CLN8 | Zornitza Stark Publications for gene: CLN8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.306 | CLN8 | Zornitza Stark Classified gene: CLN8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.306 | CLN8 | Zornitza Stark Gene: cln8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.305 | CLN8 | Zornitza Stark reviewed gene: CLN8: Rating: RED; Mode of pathogenicity: None; Publications: 33242182; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.266 | CLN8 | John Christodoulou reviewed gene: CLN8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | CLN8 |
Zornitza Stark gene: CLN8 was added gene: CLN8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8 |
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