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Genetic epilepsy syndromes v1.191 MMADHC Rebecca Foulger Source Wessex and West Midlands GLH was added to MMADHC.
Genetic epilepsy syndromes v1.190 MMADHC Rebecca Foulger Source NHS GMS was added to MMADHC.
Genetic epilepsy syndromes v1.189 MMADHC Rebecca Foulger edited their review of gene: MMADHC: Added comment: 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. Suggested gene rating: Green. ; Changed rating: AMBER
Genetic epilepsy syndromes v1.188 MMADHC Tracy Lester reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: ; Publications: 18385497; Phenotypes: Homocystinuria, cblD type, variant 1 277410, Methylmalonic aciduria and homocystinuria, cblD type, 277410, Methylmalonic aciduria, cblD type, variant 2, 277410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic epilepsy syndromes v0.1314 MMADHC Rebecca Foulger Marked gene: MMADHC as ready
Genetic epilepsy syndromes v0.1314 MMADHC Rebecca Foulger Gene: mmadhc has been classified as Green List (High Evidence).
Genetic epilepsy syndromes v0.1314 MMADHC Rebecca Foulger Classified gene: MMADHC as Green List (high evidence)
Genetic epilepsy syndromes v0.1314 MMADHC Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Green rating by Zornitza, and sufficient unrelated cases of patients with MMADHC variants and seizures (4 cases in PMID:18385497) for inclusion on panel.
Genetic epilepsy syndromes v0.1314 MMADHC Rebecca Foulger Gene: mmadhc has been classified as Green List (High Evidence).
Genetic epilepsy syndromes v0.1313 MMADHC Rebecca Foulger commented on gene: MMADHC
Genetic epilepsy syndromes v0.1313 MMADHC Rebecca Foulger Mode of inheritance for gene: MMADHC was changed from to BIALLELIC, autosomal or pseudoautosomal
Genetic epilepsy syndromes v0.1311 MMADHC Rebecca Foulger Phenotypes for gene: MMADHC were changed from to Methylmalonic aciduria and homocystinuria, cblD type, 277410
Genetic epilepsy syndromes MMADHC Zornitza Stark reviewed gene: MMADHC
Genetic epilepsy syndromes MMADHC Sarah Leigh Added gene to panel