Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.13
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Trifunctional protein deficiency 609015
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.78
Latest signed off version: v1.34
(4 Mar 2020)
Component of the following Super Panels:
Hypotonic infant
Neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
Phenotypes
- Trifunctional protein deficiency 609015
|
Version 5.352
Latest signed off version: v5.43
(4 Mar 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Trifunctional protein deficiency, 609015
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.161
Latest signed off version: v3.2
(13 Feb 2020)
|
review
|
Not set
|
Sources
- Expert Review Red
- Expert list
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
- Trifunctional protein deficiency 609015
|
Version 2.263
Latest signed off version: v2.3
(17 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
- Trifunctional protein deficiency 609015
|
Version 1.94
Latest signed off version: v1.17
(11 Nov 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Trifunctional protein deficiency, 609015
|
Version 1.900
Latest signed off version: v1.92
(21 Aug 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Trifunctional protein deficiency, OMIM:609015
- Mitochondrial trifunctional protein deficiency, MONDO:0012172
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.454
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- London North GLH
- NHS GMS
- South West GLH
- Expert list
Phenotypes
- Trifunctional protein deficiency, 609015
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1659
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Expert list
Phenotypes
- Trifunctional protein deficiency, MIM#609015
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 2.117
Latest signed off version: v2.4
(17 Feb 2020)
Component of the following Super Panels:
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
Phenotypes
- Trifunctional protein deficiency, 609015
|
Version 1.76
Latest signed off version: v1.4
(19 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- London South GLH
- MetBioNet
- Expert Review Green
- MetBioNet
- London South GLH
- Expert Review Green
Phenotypes
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
- Trifunctional protein deficiency 609015
- Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
- Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism
- Mitochondrial Trifunctional Protein deficiency
- HCM
|
Version 1.103
Latest signed off version: v1.36
(5 Aug 2021)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Expert list
- London North GLH
- South West GLH
- NHS GMS
- London North GLH
- NHS GMS
- South West GLH
Phenotypes
- Trifunctional protein deficiency, 609015
|
Version 1.241
Latest signed off version: v1.137
(5 Aug 2021)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.127
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Trifunctional protein deficiency, 609015
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 0.10
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Trifunctional protein deficiency, OMIM:609015
|