Early onset or syndromic epilepsy
Gene: MOCS1
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 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
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.
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
Source Wessex and West Midlands GLH was added to MOCS1.
Source NHS GMS was added to MOCS1.
Zornitza Stark: Seizures are part of the pheno
Phenotypes for gene: MOCS1 were changed from to Molybdenum cofactor deficiency A 252150
Mode of inheritance for gene: MOCS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: mocs1 has been classified as Green List (High Evidence).
Gene: mocs1 has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to MOCS1. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to MOCS1. Panel: Genetic Epilepsy Syndromes
MOCS1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
MOCS1 was created by Sarah Leigh