Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45
|
review
|
Not set
|
Sources
- NHS GMS
- Emory Genetics Laboratory
Phenotypes
|
Version 3.3
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
|
Version 2.6
Latest signed off version: v2.0
(22 Mar 2023)
|
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
|
Version 0.36
|
review
|
Not set
|
Sources
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Ceroid lipofuscinosis, neuronal, 8 600143
- Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
|
Version 4.134
Latest signed off version: v4.0
(22 Mar 2023)
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
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
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
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
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
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
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
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
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)
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.81
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Eye Disorders
- Ceroid lipofuscinosis, neuronal, 8, 600143
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Ceroid lipofuscinosis, neuronal, 8, 600143
- Eye Disorders
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- Expert Review Amber
Phenotypes
- Ceroid lipofuscinosis, neuronal, 8, 600143
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003
- Ceroid lipofuscinosis, neuronal, 8, 600143
|