Early onset or syndromic epilepsy

Gene: MOCS1

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 A (MOCODA) - rare AR metabolic disorder characterised by onset in infancy of poor feeding, intractable seizures and severe psychomotor retardation. Most aff indivdiuals die early in childhood. Mechler et al, 2015 - reported a natural history of MOCD in 72% the initial cardinal feature was seizures. Many variants reported in families with this disease as well as in MOCS2.

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 A 252150

Publications

• 9921896

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in unrelated cases.

Created: 16 Oct 2018, 3:10 p.m.

Green List (high evidence)

Seizures are part of the phenotype of this metabolic disorder.

Created: 16 Aug 2018, 12:10 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Molybdenum cofactor deficiency A, MIM#252150

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)