Cerebral Palsy
Gene: MOCS1EnsemblGeneIds (GRCh38): ENSG00000124615
EnsemblGeneIds (GRCh37): ENSG00000124615
OMIM: 603707, Gene2Phenotype
MOCS1 is in 13 panels
2 reviews
Clare van Eyk (University of Adelaide)
Additional cases from literature with early onset given a clinical diagnosis of CP (PMID: 22759696, PMID: 34540776). Early onset MoCD-A is frequently misdiagnosed as HIE.Created: 19 Jun 2024, 4:04 a.m. | Last Modified: 19 Jun 2024, 4:04 a.m.
Panel Version: 1.291
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Molybdenum cofactor deficiency A MIM#252150
Luisa Weiss (University of Adelaide)
One patient in a large CP cohort with biallelic MOCS1 mutation. In addition, Zaki et al. (PMID 27289259) presented several cases with some clinical overlap. There is a broad clinical spectrum as patients with mild symptoms have been described.Created: 19 Jun 2023, 6:01 a.m. | Last Modified: 19 Jun 2023, 6:01 a.m.
Panel Version: 1.88
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Molybdenum cofactor deficiency A MIM#252150
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Molybdenum cofactor deficiency A MIM#252150
- OMIM
- 603707
- Clinvar variants
- Variants in MOCS1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- Brain Calcification
- BabyScreen+ newborn screening
- Prepair 500+
- Metal Metabolism Disorders
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mocs1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mocs1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: MOCS1 was added gene: MOCS1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOCS1 were set to 22759696; 34788679 Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A MIM#252150 Review for gene: MOCS1 was set to AMBER