Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- disseminated lipogranulomatosis (Farber disease)
- NIHF
- nonimmune hydrops fetalis
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Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.31
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Farber lipogranulomatosis, 228000
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Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- North London GLH
Phenotypes
- Farber lipogranulomatosis OMIM:228000
- Farber lipogranulomatosis MONDO:0009218
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Spinal muscular atrophy with progressive myoclonic epilepsy 159950
- Farber lipogranulomatosis 228000
- Fetal hydrops
- Intellectual disability
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Version 5.3
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
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- London North GLH
- NHS GMS
Phenotypes
- Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY
- FARBER LIPOGRANULOMATOSIS
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 3.7
Latest signed off version: v3.6
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- FARBER LIPOGRANULOMATOSIS 228000
- SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY 159950
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
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
- Wessex and West Midlands GLH
- NHS GMS
- NIHRBR-RD Consortium SPEED_v3.0_20170404
Phenotypes
- Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
- SMA with myoclonic epilepsy
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- FARBER LIPOGRANULOMATOSIS
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
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Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Farber lipogranulomatosis, 228000
- Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
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