Early onset or syndromic epilepsy
Gene: SLC16A2
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)
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
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
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
Variants in this GENE are reported as part of current diagnostic practice
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
Variants in this GENE are reported as part of current diagnostic practice
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
Variants in this GENE are reported as part of current diagnostic practice
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
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.
Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome, 300523; AHDS to Allan-Herndon-Dudley syndrome, OMIM:300523
Gene: slc16a2 has been classified as Green List (High Evidence).
Mode of inheritance for gene: SLC16A2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome, 300523 to Allan-Herndon-Dudley syndrome, 300523; AHDS
Publications for gene: SLC16A2 were set to 27212794; 15980113
Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome to Allan-Herndon-Dudley syndrome, 300523
Publications for gene: SLC16A2 were set to Maranduba et al (2006) J Med Genet 43: 457_460
Mode of inheritance for gene: SLC16A2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Source Wessex and West Midlands GLH was added to SLC16A2.
Source NHS GMS was added to SLC16A2.
Ellen McDonagh: Comment on mode of inheritance
Victorian Clinical Genetics Services was added to SLC16A2. Panel: Genetic Epilepsy Syndromes
SLC16A2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,UKGTN
SLC16A2 was created by Sarah Leigh