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| Ataxia and cerebellar anomalies - narrow panel v3.30 | CLN5 | Eleanor Williams Tag Q2_21_rating was removed from gene: CLN5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.30 | CLN5 | Eleanor Williams reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.29 | CLN5 |
Eleanor Williams Source Expert Review Green was added to CLN5. Source NHS GMS was added to CLN5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v2.74 | CLN5 |
Sarah Leigh edited their review of gene: CLN5: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least ten variants reported in at least nine unrelated cases. Ataxia is a feature of Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745; Changed rating: GREEN |
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| Ataxia and cerebellar anomalies - narrow panel v2.74 | CLN5 | Sarah Leigh Tag Q2_21_rating tag was added to gene: CLN5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.74 | CLN5 | Sarah Leigh Classified gene: CLN5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.74 | CLN5 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.74 | CLN5 | Sarah Leigh Gene: cln5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.73 | CLN5 | Sarah Leigh Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.12 | CLN5 | Zornitza Stark edited their review of gene: CLN5: Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.12 | CLN5 |
Zornitza Stark gene: CLN5 was added gene: CLN5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLN5 were set to 25359263 Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 Review for gene: CLN5 was set to GREEN Added comment: Ataxia is part of the phenotype of this disorder, which is typically of paediatric onset. Please also note report of adult-onset ataxia in PMID 25359263. Sources: Expert list |
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