CLN8

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

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red CLN8 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	Not set	Sources Emory Genetics Laboratory
Red CLN8 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Green CLN8 in Lysosomal storage disorder Level 2: Metabolic Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green North London GLH Phenotypes Ceroid lipofuscinosis, neuronal, 8 OMIM:600143 neuronal ceroid lipofuscinosis 8 MONDO:0010830 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Green CLN8 in Neuronal ceroid lipofuscinosis Level 2: Metabolic Version 3.2 Latest signed off version: v3.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 8 OMIM:600143 neuronal ceroid lipofuscinosis 8 MONDO:0010830 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Green CLN8 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Literature Phenotypes Ceroid lipofuscinosis, neuronal, 8 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
Green CLN8 in Likely inborn error of metabolism Level 2: Metabolic Version 8.98 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 8
Red CLN8 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.157 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT NEURONAL CEROID LIPOFUSCINOSIS TYPE 8
Green CLN8 in DDG2P Version 6.426 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT 610003 NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 600143
Green CLN8 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.147 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Expert Review Green Expert Phenotypes Ceroid lipofuscinosis, neuronal, 8 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
Green CLN8 in Intellectual disability Level 2: Developmental disorders Version 9.304 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ceroid lipofuscinosis, neuronal, 8, 600143Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 (CLN8)
Green CLN8 in Retinal disorders Level 2: Ophthalmology Version 8.99 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Ceroid lipofuscinosis, neuronal, 8, 600143
Red CLN8 in Structural eye disease Level 2: Ophthalmology Version 4.40 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Ceroid lipofuscinosis, neuronal, 8, 600143 Eye Disorders
Amber CLN8 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH Expert Review Amber Phenotypes Ceroid lipofuscinosis, neuronal, 8, 600143