CLN5

CLN5, intracellular trafficking protein
OMIM: 608102, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green CLN5 in Mendeliome Version 1.2302	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 MONDO:0009745
Green CLN5 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.13 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, 5, MIM# 256731 MONDO:0009745
Green CLN5 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Ceroid lipofuscinosis, neuronal, 5, MIM# 256731
Green CLN5 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CLN5 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 MONDO:0009745
Green CLN5 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.30 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 Phenotypes Ceroid lipofuscinosis neuronal 5, MIM# 256731
Green CLN5 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, 5, MIM#256731
Green CLN5 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.219 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Ceroid lipofuscinosis, neuronal, 5 OMIM #256731
Green CLN5 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, 5, 256731 (3)
Green CLN5 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, 5
Green CLN5 in Prepair 1000+ Level 2: Screening Version 1.1566	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 MONDO:0009745
Amber CLN5 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BabySeq Category A gene Phenotypes Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 MONDO:0009745 Tags clinical trial
Green CLN5 in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 5, 256731 (3)