Version 0.36
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review
|
Not set
|
Sources
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Molybdenum cofactor deficiency C, OMIM:615501
- Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism)
Tags
|
Version 4.137
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Molybdenum cofactor deficiency C, OMIM:615501
- Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism)
|
Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- DD-Gene2Phenotype
Phenotypes
- GPHN-related molybdenum cofactor deficiency, OMIM:615501
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
- Expert
Phenotypes
- Molybdenum cofactor deficiency C, OMIM:615501
- Developmental and epileptic encephalopathy, MONDO:0100062
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Molybdenum cofactor deficiency C, OMIM:615501
Tags
- deletions
- treatable
- Autism Spectrum Disorder
|
Version 3.78
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Molybdenum cofactor deficiency C, 615501
|