Early onset or syndromic epilepsy

Gene: MOCS2

I don't know

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

Green List (high evidence)

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

• 11746050
• 16021469

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.

Green List (high evidence)

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

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)