Brain Calcification
Gene: MOCS1EnsemblGeneIds (GRCh38): ENSG00000124615
EnsemblGeneIds (GRCh37): ENSG00000124615
OMIM: 603707, Gene2Phenotype
MOCS1 is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Molybdenum cofactor deficiency A, MIM# 252150
Yetong Chen (University of Melbourne)
Limited evidence supports the causal role of the MOCS1 gene in brain calcification.
PMID reports 2 patients (patients 1 and 5) with different homozygous MOCS1 variants (c.253C > T (p.Q85*) and c.722_722delT (p.L241Rfs*6)) who developed brain calcification.
Sources: Expert listCreated: 20 Apr 2023, 3:41 a.m.
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
Yetong Chen (University of Melbourne)gene: MOCS1 was added gene: MOCS1 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOCS1 were set to 27289259 Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A, MIM# 252150 Review for gene: MOCS1 was set to RED