Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.13
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
Phenotypes
- Methylmalonic aciduria and homocystinuria, cblC type 277400
|
Version 2.131
Latest signed off version: v2.3
(2 Mar 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
- Literature
Phenotypes
- Methylmalonic aciduria and homocystinuria, cblC type
|
Version 2.300
Latest signed off version: v2.23
(8 Oct 2020)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Ataxia and hypogonadism
- Methylmalonic aciduria and homocystinuria, cblC type, 277400
|
Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 2.15
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Methylmalonic aciduria and homocystinuria, cblC type, 277400
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.303
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert review
Phenotypes
- Ataxia and hypogonadism
- Methylmalonic aciduria and homocystinuria, cblC type, 277400
|
Version 1.37
Latest signed off version: v1.2
(4 Mar 2020)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Methylmalonic aciduria and homocystinuria, cblC type, 277400
|
Version 2.275
Latest signed off version: v2.178
(5 Aug 2021)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- Ataxia and hypogonadism
- Methylmalonic aciduria and homocystinuria, cblC type, 277400
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Literature
Phenotypes
- Methylmalonic aciduria and homocystinuria, cblC type 277400
|
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
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Methylmalonic aciduria and homocystinuria, cblC type, 277400
|
Version 1.900
Latest signed off version: v1.92
(21 Aug 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE
|
Version 2.76
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE 277400
|
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
- NHS GMS
- London North GLH
Phenotypes
- Methylmalonic aciduria and homocystinuria, cblC type, 277400
- Onset infancy to adulthood
- thrombotic thrombocytopenia with encephalopathy, myelopathy, renal and pulmonary complications (can be life threatening), retinitis pigmentosa, axonal motor neuropathy. Treated with high dose vitamin B12
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.563
Latest signed off version: v2.2
(13 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Methylmalonic aciduria and homocystinuria, cblC type, 277400
|
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 Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Methylmalonic aciduria and homocystinuria, cblC type, 277400
- METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE
|
Version 2.158
Latest signed off version: v2.13
(6 Oct 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
Phenotypes
- Ataxia and hypogonadism
- Methylmalonic aciduria and homocystinuria cblC type, 277400
- Methylmalonic aciduria and homocystinuria, cblC type, 277400
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.285
Latest signed off version: v2.195
(5 Aug 2021)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Methylmalonic aciduria and homocystinuria, cblC type, OMIM:277400, MONDO:0010184
|
Version 1.76
Latest signed off version: v1.4
(19 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- NHS GMS
- South West GLH
- MetBioNet
- MetBioNet
- South West GLH
Phenotypes
- Methylmalonic aciduria and homocystinuria, cblC type, 277400
- DCM
- Methylmalonic aciduria
- Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap
- Hypertrophic-hypocontractile cardiomyopathy
|
Version 1.103
Latest signed off version: v1.36
(5 Aug 2021)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Onset infancy to adulthood
- Methylmalonic aciduria and homocystinuria, cblC type, 277400
- thrombotic thrombocytopenia with encephalopathy, myelopathy, renal and pulmonary complications (can be life threatening), retinitis pigmentosa, axonal motor neuropathy. Treated with high dose vitamin B12
|
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
- Methylmalonic aciduria and homocystinuria, cblC type, 277400
|