Early onset or syndromic epilepsy

Gene: MAF

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)

AD Cataract 21 and AD Ayme-Gripp syndrome (AYGRP). Features of AYGRP include congenital cataracts, sensorieural hearing loss intellectual disability, seizures, brachycephaly, distinctive flat facial appearance and reduced growth. No mention in the clinical feautres section of OMIM that any affecteds listed had seizures or epilepsy. Paper by Niceta et al, 7 diff de novo mutations were identifed in 8 unrelated individuals. Of these all had seizures of some sort. Functional studies support pathogenicity. Javadiyan et al , 2017 - novel likely pathogenic variant detected in proband and aff mother - phenotpe included seizures.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ayme-Gripp syndrome, 601088; Cataract 21, multiple types, 610202

Publications

• 25865493

Green List (high evidence)

Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported in unrelated cases.

Created: 10 Apr 2018, 10:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Ayme-Gripp syndrome 601088

Publications

• 25865493