Early onset or syndromic epilepsy
Gene: MOCS2
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AR Molybdenum cofactor deficiency b (MOCODb) - rare AR metabolic disorder characterised by neonatal onset of intractable seizures , opisthotonus and facial dysmorphism. Most aff indivdiuals die early in childhood. Reiss et al 1999 - biallelic mutations in the MOCS2 gene in 7/8 patients negative for MOCS1 gene mutations - a 2bp del accounted for 50% of identified alleles. Other variants also identified.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Molybdenum cofactor deficiency B, 252160
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported.Created: 16 Oct 2018, 3:14 p.m.
Seizures are part of the phenotype of this metabolic disorder.Created: 16 Aug 2018, 12:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Molybdenum cofactor deficiency B, MIM#252160
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to MOCS2.
Source NHS GMS was added to MOCS2.
Zornitza Stark: Seizures are part of the pheno
Phenotypes for gene: MOCS2 were changed from to Molybdenum cofactor deficiency B 252160
Mode of inheritance for gene: MOCS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: mocs2 has been classified as Green List (High Evidence).
Gene: mocs2 has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to MOCS2. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to MOCS2. Panel: Genetic Epilepsy Syndromes
MOCS2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert,Expert Review Red
MOCS2 was created by Sarah Leigh