Early onset or syndromic epilepsy

Gene: SLC16A2

Green List (high evidence)

Frints et al 2008 (18398436) - de novo translocation in female interrupting this gene had AHDS.

Created: 5 Sep 2019, 2:22 p.m. | Last Modified: 5 Sep 2019, 2:22 p.m.

Panel Version: 1.261

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

I don't know

Comment on mode of inheritance: Updated Mode of Inheritance from XLR to XLD based on post-Webex review by Helen Lord.

Created: 7 Sep 2019, 11:56 a.m. | Last Modified: 7 Sep 2019, 11:56 a.m.

Panel Version: 1.296

Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.

Created: 5 Sep 2019, 2:26 p.m. | Last Modified: 5 Sep 2019, 2:26 p.m.

Panel Version: 1.262

Comment on mode of inheritance: MOI is recorded as hemizygous in Gene2Phenotype and XL in OMIM. XLR inheritance was confirmed with reviewer, as stated by Ellen McDonagh.

Created: 13 Aug 2019, 1:17 p.m. | Last Modified: 13 Aug 2019, 1:17 p.m.

Panel Version: 1.210

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)

XL Allan-Herndon-Dudley syndrome. Epilepsy not a reported feature on OMIM, however 25% in gene reviews.

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

Panel Version: 1.188

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Allan-Herndon-Dudley syndrome, 300523

Publications

• 27212794

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Allan-Herndon-Dudley syndrome

Publications

• Maranduba et al (2006) J Med Genet 43: 457_460

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Allan-Herndon-Dudley syndrome

Publications

• Maranduba et al (2006) J Med Genet 43: 457_460

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Allan-Herndon-Dudley syndrome

Publications

• Maranduba et al (2006) J Med Genet 43: 457_460

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Allan-Herndon-Dudley syndrome

Publications

• Maranduba et al (2006) J Med Genet 43: 457 460

Variants in this GENE are reported as part of current diagnostic practice

Comment on mode of inheritance: Confirmed with reviewer.

Created: 29 Jan 2016, 5:16 p.m.

Comment on mode of inheritance: X-linked dominant in OMIM, hemizygous (X-linked recessive) in G2P.

Created: 29 Jan 2016, 2:46 p.m.