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Panel Panel Acute rhabdomyolysis Additional findings health related Additional findings health related - adults Additional findings health related - adult specific Additional findings health related - children Additional findings health related - CNV analysis adults Additional findings health related - CNV analysis adult specific Additional findings health related - CNV analysis children Additional findings reproductive carrier status Adult onset movement disorder Adult solid tumours cancer susceptibility Adult solid tumours for rare disease Albinism or congenital nystagmus Amelogenesis imperfecta Amyloidosis Amyotrophic lateral sclerosis/motor neuron disease Aniridia Anophthalmia or microphthalmia Arrhythmogenic cardiomyopathy Arthrogryposis Ataxia and cerebellar anomalies - narrow panel Atypical haemolytic uraemic syndrome Auditory Neuropathy Spectrum Disorder Autism Autoinflammatory disorders Autosomal recessive congenital ichthyosis Autosomal recessive primary hypertrophic osteoarthropathy Bardet Biedl syndrome Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Bladder cancer pertinent cancer susceptibility Bleeding and platelet disorders Brain cancer pertinent cancer susceptibility Brain channelopathy Breast cancer pertinent cancer susceptibility Brugada syndrome CAKUT Cardiac arrhythmias Cardiac arrhythmias - additional genes Cardiomyopathies - including childhood onset Cataracts Catecholaminergic polymorphic VT Cerebellar hypoplasia Cerebral folate deficiency Cerebral malformations Cerebral vascular malformations CHARGE syndrome Childhood onset dystonia or chorea or related movement disorder Childhood solid tumours cancer susceptibility Choanal atresia Cholestasis Chondrodysplasia punctata Classical tuberous sclerosis Clefting ClinGen_Familial thoracic aortic aneurysm and aortic dissection ClinGen Gene Validity Curations Colorectal cancer pertinent cancer susceptibility Combined factor V and VIII deficiency Common craniosynostosis syndromes Confirmed Fanconi anaemia or Bloom syndrome Congenital adrenal hypoplasia Congenital disorders of glycosylation Congenital fibrosis of the extraocular muscles Congenital hyperinsulinism Congenital hypothyroidism Congenital muscular dystrophy Congenital myaesthenic syndrome Congenital myopathy Corneal abnormalities Corneal dystrophies COVID-19 research Craniosynostosis Currarino triad Cutaneous photosensitivity with a likely genetic cause Cystic kidney disease Cystic renal disease Cytopenia - NOT Fanconi anaemia Cytopenias and congenital anaemias DDG2P Deafness and congenital structural abnormalities Diabetes - neonatal onset Diabetes with additional phenotypes suggestive of a monogenic aetiology Dilated cardiomyopathy - adult and teen Dilated Cardiomyopathy and conduction defects Disorders of sex development Distal myopathies Ductal plate malformation Early onset dementia (encompassing fronto-temporal dementia and prion disease) Early onset dystonia Ectodermal dysplasia Ectodermal dysplasia without a known gene mutation Ehlers Danlos syndromes Endocrine neoplasms Endometrial cancer pertinent cancer susceptibility Epidermodysplasia verruciformis Epidermolysis bullosa Epidermolysis bullosa and congenital skin fragility Erythropoietic protoporphyria, mild variant Extreme early-onset hypertension Familial breast cancer Familial cerebral small vessel disease Familial cicatricial alopecia Familial diabetes Familial disseminated superficial actinic porokeratosis Familial dysautonomia Familial hidradenitis suppurativa Familial Hirschsprung Disease Familial hypercholesterolaemia Familial hypercholesterolaemia - targeted panel Familial hyperparathyroidism Familial hypoparathyroidism Familial melanoma Familial Meniere Disease Familial Neural Tube Defects Familial non syndromic congenital heart disease Familial prostate cancer Familial pulmonary fibrosis Familial rhabdomyosarcoma Familial tumoral calcinosis Familial Tumours Syndromes of the central & peripheral Nervous system Fetal anomalies Fetal hydrops Gastrointestinal epithelial barrier disorders Gastrointestinal neuromuscular disorders Generalised pustular psoriasis Gene therapy clinical trials Genetic epilepsy syndromes Genodermatoses with malignancies Genomic imprinting GI tract tumours Glaucoma (developmental) Glycogen storage disease Groopman et al 2019 - Genes with diagnostic variants Growth failure in early childhood Haematological malignancies cancer susceptibility Haematological malignancies for rare disease Haematuria Head and neck cancer pertinent cancer susceptibility Hearing loss Hereditary ataxia Hereditary ataxia - adult onset Hereditary ataxia and cerebellar anomalies - childhood onset Hereditary Erythrocytosis Hereditary haemorrhagic telangiectasia Hereditary neuropathy Hereditary neuropathy NOT PMP22 copy number Hereditary spastic paraplegia Hereditary spastic paraplegia - adult onset Hereditary spastic paraplegia - childhood onset Holoprosencephaly Hydroa vacciniforme Hydrocephalus Hyperammonaemia Hyperthyroidism Hypertrophic cardiomyopathy - teen and adult Hypocalciuric hypercalcaemia Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism idiopathic Hypophosphataemia or rickets Hypotonic infant Ichthyosis and erythrokeratoderma Idiopathic ventricular fibrillation Inborn errors of metabolism Infantile enterocolitis & monogenic inflammatory bowel disease Infantile nystagmus Inherited bleeding disorders Inherited breast cancer and ovarian cancer Inherited MMR deficiency (Lynch syndrome) Inherited non-medullary thyroid cancer Inherited ovarian cancer (without breast cancer) Inherited pancreatic cancer Inherited phaeochromocytoma and paraganglioma Inherited phaeochromocytoma and paraganglioma excluding NF1 Inherited polyposis Inherited predisposition to acute myeloid leukaemia (AML) Inherited predisposition to GIST Inherited renal cancer Inherited white matter disorders Insulin resistance (including lipodystrophy) Intellectual disability Intestinal failure Intracerebral calcification disorders Iron metabolism disorders IUGR and IGF abnormalities Juvenile dermatomyositis Kabuki syndrome Ketotic hypoglycaemia Kleine-Levin syndrome Laterality disorders and isomerism Leber hereditary optic neuropathy Left Ventricular Noncompaction Cardiomyopathy Limb disorders Limb girdle muscular dystrophy Lipodystrophy - childhood onset Lipoprotein lipase deficiency Long QT syndrome Lung cancer pertinent cancer susceptibility Lysosomal storage disorder Malformations of cortical development Malignant hyperthermia Melanoma pertinent cancer susceptibility Membranoproliferative glomerulonephritis Mitochondrial disorders Mitochondrial disorder with complex I deficiency Mitochondrial disorder with complex II deficiency Mitochondrial disorder with complex III deficiency Mitochondrial disorder with complex IV deficiency Mitochondrial disorder with complex V deficiency Mitochondrial DNA maintenance disorder Mitochondrial liver disease Monogenic diabetes Monogenic nephrogenic diabetes insipidus Mosaic skin disorders - deep sequencing Mucopolysaccharideosis, Gaucher, Fabry Multi locus imprinting disorders Multi-organ autoimmune diabetes Multiple endocrine tumours Multiple Epiphyseal Dysplasia Multiple lipomas Multiple monogenic benign skin tumours Neonatal cholestasis Nephrocalcinosis or nephrolithiasis Neurodegenerative disorders - adult onset Neuroendocrine cancer pertinent cancer susceptibility Neurofibromatosis Type 1 Neurological ciliopathies Neurological segmental overgrowth Neuromuscular disorders Neuronal ceroid lipofuscinosis Neurotransmitter disorders Non-acute porphyrias Non-CF bronchiectasis Non-syndromic familial congenital anorectal malformations Non-syndromic hypotrichosis Ocular and oculo-cutaneous albinism Ocular coloboma Ophthalmological ciliopathies Optic neuropathy Osteogenesis imperfecta Osteopetrosis Ovarian cancer pertinent cancer susceptibility Paediatric disorders Paediatric disorders - additional genes Paediatric motor neuronopathies Pain syndromes Palmoplantar keratoderma and erythrokeratodermas Palmoplantar keratodermas Pancreatitis Parathyroid Cancer Parkinson Disease and Complex Parkinsonism Paroxysmal central nervous system disorders Peeling skin syndrome Periodic fever syndromes Peroxisomal disorders PHACE(S) syndrome Pigmentary skin disorders Pituitary hormone deficiency Pityriasis rubra pilaris Pneumothorax - familial Polycystic liver disease interim Possible mitochondrial disorder - nuclear genes Primary ciliary disorders Primary immunodeficiency Primary lymphoedema Primary ovarian insufficiency Primary pigmented nodular adrenocortical disease Progressive cardiac conduction disease Prostate cancer pertinent cancer susceptibility Proteinuric renal disease Pulmonary arterial hypertension Pulmonary fibrosis familial Pyruvate dehydrogenase (PDH) deficiency Radial dysplasia Rare anaemia Rare genetic inflammatory skin disorders Rare multisystem ciliopathy disorders Rare multisystem ciliopathy Super panel RASopathies Refuted genes Renal cancer pertinent cancer susceptibility Renal ciliopathies Renal superpanel - broad Renal superpanel - narrow Renal tubulopathies Respiratory ciliopathies including non-CF bronchiectasis Retinal disorders Rhabdoid tumour predisposition Rhabdomyolysis and metabolic muscle disorders Sarcoma cancer susceptibility Sarcoma susceptibility Segmental overgrowth disorders Severe early-onset obesity Severe familial anorexia Severe hypertriglyceridaemia Severe microcephaly Severe multi-system atopic disease with high IgE Severe Paediatric Disorders Short QT syndrome Silver Russell syndrome Skeletal ciliopathies Skeletal dysplasia Skeletal Muscle Channelopathies Skeletal muscle channelopathy Stickler syndrome Structural basal ganglia disorders Structural eye disease Sudden cardiac death Sudden death in young people Surfactant deficiency Testicular cancer pertinent cancer susceptibility Thoracic aortic aneurysm and dissection Thoracic aortic aneurysm or dissection Thoracic dystrophies Thrombocythaemia Thrombophilia Thyroid cancer pertinent cancer susceptibility Tubulointerstitial kidney disease Tumour predisposition - childhood onset Ultra-rare undescribed monogenic disorders Undiagnosed metabolic disorders Undiagnosed monogenic disorder seen in a specialist genetics clinic Unexplained kidney failure in young people Unexplained paediatric onset end-stage renal disease Upper gastrointestinal cancer pertinent cancer susceptibility VACTERL-like phenotypes Vascular skin disorders Vici Syndrome and other autophagy disorders Viral resistance White matter disorders - adult onset White matter disorders and cerebral calcification - narrow panel White matter disorders - childhood onset Wilms tumour with features suggestive of predisposition Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

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17 Mar 2021	Neuronal ceroid lipofuscinosis v1.23	CLCN6	Sarah Leigh edited their review of gene: CLCN6: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least three de novo occurrances of a single variant reported.; Changed rating: GREEN
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.23	CLCN6	Sarah Leigh Tag Q2_21_rating tag was added to gene: CLCN6.
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.23	CLCN6	Sarah Leigh Classified gene: CLCN6 as Amber List (moderate evidence)
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.23	CLCN6	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.23	CLCN6	Sarah Leigh Gene: clcn6 has been classified as Amber List (Moderate Evidence).
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.22	CLCN6	Sarah Leigh Mode of inheritance for gene: CLCN6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.21	CLCN6	Sarah Leigh Added comment: Comment on phenotypes: There is no Mondo term for this phenotype at present
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.21	CLCN6	Sarah Leigh Phenotypes for gene: CLCN6 were changed from to Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.20	CLCN6	Sarah Leigh Publications for gene: CLCN6 were set to 29667327; 26658788; 25794116
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.19	GRN	Sarah Leigh Phenotypes for gene: GRN were changed from to Ceroid lipofuscinosis, neuronal, 11 OMIM:614706; neuronal ceroid lipofuscinosis 11 MONDO:0013866
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.18	TPP1	Sarah Leigh Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2 OMIM:204500; neuronal ceroid lipofuscinosis 2 MONDO:0008769
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.17	PPT1	Sarah Leigh Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1 OMIM:256730; neuronal ceroid lipofuscinosis 1 MONDO:0009744
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.16	MFSD8	Sarah Leigh Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 OMIM:610951; neuronal ceroid lipofuscinosis 7 MONDO:0012588
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.15	KCTD7	Sarah Leigh Phenotypes for gene: KCTD7 were changed from to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726; progressive myoclonic epilepsy type 3 MONDO:0012721
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.14	DNAJC5	Sarah Leigh Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350; neuronal ceroid lipofuscinosis 4B MONDO:0008083
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.13	CTSF	Sarah Leigh Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362; neuronal ceroid lipofuscinosis 13 MONDO:0014147
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.12	CTSD	Sarah Leigh Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10 OMIM:610127; neuronal ceroid lipofuscinosis 10 MONDO:0012414
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.11	CLN8	Sarah Leigh Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391 to 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
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.10	CLN8	Sarah Leigh Phenotypes for gene: CLN8 were changed from to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.9	CLN6	Sarah Leigh Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6 OMIM:601780; neuronal ceroid lipofuscinosis 6 MONDO:0011144; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300; neuronal ceroid lipofuscinosis 4A MONDO:0008768
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.8	CLN5	Sarah Leigh Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.7	CLN3	Sarah Leigh Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3 OMIM:204200; neuronal ceroid lipofuscinosis 3 MONDO:0008767
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.6	ATP13A2	Sarah Leigh Phenotypes for gene: ATP13A2 were changed from Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975 to Kufor-Rakeb syndrome OMIM:606693; Kufor-Rakeb syndrome MONDO:0011706
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.5	ATP13A2	Sarah Leigh Phenotypes for gene: ATP13A2 were changed from to Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975
09 Dec 2020	Neuronal ceroid lipofuscinosis v1.4	CLCN6	Zornitza Stark reviewed gene: CLCN6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25794116, 21107136, 33217309; Phenotypes: Neurodegeneration, Benign partial epilepsy, febrile seizures, NCL; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
15 Oct 2020	Neuronal ceroid lipofuscinosis v1.4		Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off Panel version has been signed off
17 Feb 2020	Neuronal ceroid lipofuscinosis v1.3		Sarah Leigh Panel version has been signed off
17 Sep 2019	Neuronal ceroid lipofuscinosis v1.0		Sarah Leigh promoted panel to version 1.0
17 Sep 2019	Neuronal ceroid lipofuscinosis v0.11		Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off
16 Sep 2019	Neuronal ceroid lipofuscinosis v0.9		Sarah Leigh List of related panels changed from to R231
13 Aug 2019	Neuronal ceroid lipofuscinosis v0.8	ATP13A2	Sarah Leigh Publications for gene: ATP13A2 were set to
13 Aug 2019	Neuronal ceroid lipofuscinosis v0.7	ATP13A2	Sarah Leigh Classified gene: ATP13A2 as Green List (high evidence)
13 Aug 2019	Neuronal ceroid lipofuscinosis v0.7	ATP13A2	Sarah Leigh Added comment: Comment on list classification: Comments from Dr Clare E Beesley, Clinical Scientist, London North Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust: we specified amber on the NCL panel because there was only one reported family that had storage inclusions consistent with NCL (PMID 22388936) and there is a terrier dog model with similar features (PMID 21362476). However, it’s possible that patients with Kufor-Rakeb have storage inclusions consistent with NCL, but they’ve just not been investigated. There is plenty of evidence for it to be green for Kufor-Rakeb syndrome in the undiagnosed metabolic disorders panel (https://panelapp.genomicsengland.co.uk/panels/302/gene/ATP13A2), so, for consistency, we would be happy for it to be promoted to green for the NCL panel.
13 Aug 2019	Neuronal ceroid lipofuscinosis v0.7	ATP13A2	Sarah Leigh Gene: atp13a2 has been classified as Green List (High Evidence).
09 Jul 2019	Neuronal ceroid lipofuscinosis v0.6	CLCN6	Sarah Leigh Publications for gene: CLCN6 were set to
28 Mar 2019	Neuronal ceroid lipofuscinosis v0.4	CTSF	Sarah Leigh Publications for gene: CTSF were set to
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.3	TPP1	Emma Ashton reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.3	PPT1	Emma Ashton reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.3	MFSD8	Emma Ashton reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.3	KCTD7	Emma Ashton reviewed gene: KCTD7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.3	GRN	Emma Ashton reviewed gene: GRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.3	DNAJC5	Emma Ashton reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.3	CTSF	Emma Ashton reviewed gene: CTSF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.3	CTSD	Emma Ashton reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.3	CLN8	Emma Ashton reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.3	CLN6	Emma Ashton reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.3	CLN5	Emma Ashton reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.3	CLN3	Emma Ashton reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.3	CLCN6	Emma Ashton reviewed gene: CLCN6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.3	ATP13A2	Emma Ashton reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.2	TPP1	Ivone Leong gene: TPP1 was added gene: TPP1 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.2	PPT1	Ivone Leong gene: PPT1 was added gene: PPT1 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.2	MFSD8	Ivone Leong gene: MFSD8 was added gene: MFSD8 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.2	KCTD7	Ivone Leong gene: KCTD7 was added gene: KCTD7 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.2	GRN	Ivone Leong gene: GRN was added gene: GRN was added to Neuronal ceroid lipofuscinosis. Sources: London North GLH,Expert Review Amber,NHS GMS Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.2	DNAJC5	Ivone Leong gene: DNAJC5 was added gene: DNAJC5 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.2	CTSF	Ivone Leong gene: CTSF was added gene: CTSF was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.2	CTSD	Ivone Leong gene: CTSD was added gene: CTSD was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.2	CLN8	Ivone Leong gene: CLN8 was added gene: CLN8 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.2	CLN6	Ivone Leong gene: CLN6 was added gene: CLN6 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.2	CLN5	Ivone Leong gene: CLN5 was added gene: CLN5 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.2	CLN3	Ivone Leong gene: CLN3 was added gene: CLN3 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.2	CLCN6	Ivone Leong gene: CLCN6 was added gene: CLCN6 was added to Neuronal ceroid lipofuscinosis. Sources: London North GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: CLCN6 was set to Unknown
13 Feb 2019	Neuronal ceroid lipofuscinosis v0.2	ATP13A2	Ivone Leong gene: ATP13A2 was added gene: ATP13A2 was added to Neuronal ceroid lipofuscinosis. Sources: London North GLH,Expert Review Amber,NHS GMS Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
16 Nov 2018	Neuronal ceroid lipofuscinosis v0.0		Ellen McDonagh Added Panel Neuronal ceroid lipofuscinosis Set panel types to: GMS Rare Disease