Cerebral Palsy
Gene: MOCS2
MOCS2 (molybdenum cofactor synthesis 2)
EnsemblGeneIds (GRCh38): ENSG00000164172
EnsemblGeneIds (GRCh37): ENSG00000164172
OMIM: 603708, Gene2Phenotype
MOCS2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000164172
EnsemblGeneIds (GRCh37): ENSG00000164172
OMIM: 603708, Gene2Phenotype
MOCS2 is in 12 panels
1 review
Luisa Weiss (University of Adelaide)
Two patients in a large CP cohort presenting with cerebral palsy. In addition one case report with a patient initially diagnosed as having CP and later found to have biallelic MOCS2 mutations.
Sources: LiteratureCreated: 19 Jun 2023, 6:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Molybdenum cofactor deficiency B MIM#252160
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Molybdenum cofactor deficiency B MIM#252160
- OMIM
- 603708
- Clinvar variants
- Variants in MOCS2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Metal Metabolism Disorders
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cerebral Palsy
History Filter Activity
10 Jul 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mocs2 has been classified as Green List (High Evidence).
10 Jul 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mocs2 has been classified as Green List (High Evidence).
19 Jun 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: MOCS2 was added gene: MOCS2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOCS2 were set to 33528536; 22759696 Phenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency B MIM#252160 Review for gene: MOCS2 was set to GREEN