GRN

granulin precursor
OMIM: 138945, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Red GRN in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.45	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Green GRN in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.121	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Eligibility statement prior genetic testing Expert Phenotypes clinical presentation suggestive of cortico-basal/PSP syndrome frontotemporal lobar degeneration with TDP43 inclusions Complex parkinsonism
Green GRN in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Eligibility statement prior genetic testing UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Frontotemporal Dementia Clinical syndrome FTLD (Frontotemporal lobar degeneration)
Green GRN in Ataxia and cerebellar anomalies - narrow panel Version 5.1 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Ceroid lipofuscinosis, neuronal, 11 OMIM:614706 neuronal ceroid lipofuscinosis 11 MONDO:0013866
Amber GRN in Neuronal ceroid lipofuscinosis Version 2.6 Latest signed off version: v2.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS London North GLH Phenotypes Ceroid lipofuscinosis, neuronal, 11 OMIM:614706 neuronal ceroid lipofuscinosis 11 MONDO:0013866 Tags Q4_22_promote_green
Red GRN in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 6.1 Latest signed off version: v6.0 (1 May 2024)	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485Myasthenia, limb-girdle, familial, 254300
Green GRN in Adult onset neurodegenerative disorder Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485 Aphasia, primary progressive, OMIM:607485 Ceroid lipofuscinosis, neuronal, 11, OMIM:614706
Amber GRN in Likely inborn error of metabolism - targeted testing not possible Version 5.1 Latest signed off version: v5.0 (1 May 2024) 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 Amber Phenotypes Ceroid lipofuscinosis, neuronal, 11 OMIM:614706 neuronal ceroid lipofuscinosis 11 MONDO:0013866 Tags Q4_23_promote_green
Red GRN in Amyotrophic lateral sclerosis/motor neuron disease Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.69	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert
Green GRN in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.1 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ceroid lipofuscinosis, neuronal, 11, OMIM:614706 neuronal ceroid lipofuscinosis 1, MONDO:0013866
Red GRN in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.1 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 Aphasia, primary progressive, 607485 Ceroid lipofuscinosis, neuronal, 11, 614706
Green GRN in Hereditary ataxia with onset in adulthood Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Ceroid lipofuscinosis, neuronal, 11 OMIM:614706 neuronal ceroid lipofuscinosis 11 MONDO:0013866
Green GRN in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ceroid lipofuscinosis, neuronal, 11, OMIM:614706 neuronal ceroid lipofuscinosis 1, MONDO:0013866
Red GRN in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Ceroid lipofuscinosis, neuronal, 11, OMIM:614706
Green GRN in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London North GLH Expert Review Green Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485
Green GRN in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Aphasia, primary progressive, 607485 Ceroid lipofuscinosis, neuronal, 11, 614706 Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485