CLN6

CLN6, transmembrane ER protein
OMIM: 606725, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Red CLN6 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8

review Not set
Sources
  • Emory Genetics Laboratory

Red CLN6 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.5

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green CLN6 in Ataxia and cerebellar anomalies - narrow panel


Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300

Green CLN6 in Lysosomal storage disorder


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • North London GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300

Green CLN6 in Hereditary ataxia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.205

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300

Green CLN6 in Neuronal ceroid lipofuscinosis


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green

Green CLN6 in Neurodegenerative disorders - adult onset


Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300

Green CLN6 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.413

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300

Green CLN6 in Inborn errors of metabolism


Version 2.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300

Red CLN6 in Fetal anomalies


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET
  • CEROID LIPOFUSCINOSIS, NEURONAL, 6

Green CLN6 in DDG2P


Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET 204300
  • CEROID LIPOFUSCINOSIS, NEURONAL, 6 601780

Amber CLN6 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300

Green CLN6 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, 601780Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
  • CEROID LIPOFUSCINOSIS, NEURONAL, 6

Green CLN6 in Hereditary ataxia - adult onset


Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Hereditary ataxia v1.148
Phenotypes
  • Ceroid neuronal lipofuscinosis kufs type, 204300
  • Ceroid lipofuscinosis, neuronal, 6, 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
  • Ceroid neuronal lipofuscinosis 6, 601780

Green CLN6 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.6

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Ceroid lipofuscinosis, neuronal, 6 601780

Red CLN6 in Structural eye disease


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, 601780
  • Eye Disorders

Red CLN6 in Childhood onset dystonia or chorea or related movement disorder


Version 1.0

review Not set
Sources
  • Expert Review Red
  • London North GLH