Epileptic encephalopathy
Gene: SLC16A2
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for SLC16A2 were set to Allan-Herndon-Dudley syndrome
Publications for SLC16A2 were set to Maranduba et al (2006) J Med Genet 43: 457_460
Mode of inheritance for SLC16A2 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mode of inheritance for SLC16A2 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
The Gel status was updated for this whole panel
SLC16A2 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
SLC16A2 was added to Epileptic encephalopathypanel. Sources: UKGTN