CLN8

CLN8, transmembrane ER and ERGIC protein
OMIM: 607837, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green CLN8 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Green CLN8 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, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 Tags founder
Green CLN8 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 Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Green CLN8 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CLN8 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green CLN8 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, 8, Northern epilepsy variant 610003 Ceroid lipofuscinosis, neuronal, 8 600143
Green CLN8 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, 8 OMIM #600143
Green CLN8 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, 8, 600143 (3)
Green CLN8 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, 8
Green CLN8 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, 8, 600143 (3)
Red CLN8 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Green CLN8 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, 8, 600143 (3)