CLN6

CLN6, transmembrane ER protein
OMIM: 606725, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green CLN6 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ceroid lipofuscinosis, neuronal, Kufs type, adult onset MIM#204300
Green CLN6 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300
Green CLN6 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.11 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300
Green CLN6 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Phenotypes Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300
Green CLN6 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CLN6 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Ceroid lipofuscinosis, neuronal, 6, MIM# 601780
Green CLN6 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Ceroid neuronal lipofuscinosis 6, 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 Ceroid neuronal lipofuscinosis kufs type, 204300 Ceroid lipofuscinosis, neuronal, 6, 601780
Green CLN6 in Progressive Myoclonic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.19	review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 Ceroid lipofuscinosis, neuronal, 6, 601780
Green CLN6 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.209 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Phenotypes Ceroid lipofuscinosis, neuronal, 6 OMIM #601780
Green CLN6 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal 6, 601780 (3)
Green CLN6 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 6
Green CLN6 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal 6, 601780 (3)
Amber CLN6 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BabySeq Category A gene Phenotypes Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 Tags clinical trial
Green CLN6 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal 6, 601780 (3)